New Count Results

Dataset

Human genes (GRCh38.p13)

Filters

[None selected]

Attributes

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

Protein stable ID

[5 enabled]

Protein stable ID version

[6 enabled]

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

[4 enabled]

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

[4 enabled][4 enabled]

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

Variant name

[5 enabled][5 enabled]

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

Variant name

[5 enabled][5 enabled]

Peptide

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

[5 enabled][5 enabled]

Dataset

[None Selected]

Dataset

[None selected]

Please select columns to be included in the output and hit 'Results' when ready

Missing non coding genes in your mart query output, please check the following FAQ

Features
Structures
Homologues (Max select 6 orthologues)

Variant (Germline)
Variant (Somatic)
Sequences

GENE:

Ensembl

Gene stable ID

Gene stable ID version

Transcript stable ID

Transcript stable ID version

Protein stable ID

Protein stable ID version

Exon stable ID

Gene description

Chromosome/scaffold name

Gene start (bp)

Gene end (bp)

Strand

Karyotype band

Transcript start (bp)

Transcript end (bp)

Transcription start site (TSS)

Transcript length (including UTRs and CDS)

Transcript support level (TSL)

GENCODE basic annotation

APPRIS annotation

Ensembl Canonical

RefSeq match transcript (MANE Select)

RefSeq match transcript (MANE Plus Clinical)

Gene name

Source of gene name

Transcript name

Source of transcript name

Transcript count

Gene % GC content

Gene type

Transcript type

Source (gene)

Source (transcript)

Version (gene)

Version (transcript)

Version (protein)

Gene Synonym

Phenotype

Phenotype description

Source name

Study external reference

Strain name

Strain gender

P value

EXTERNAL:

GO term accession

GO term name

GO term definition

GO term evidence code

GO domain

GOSlim GOA

GOSlim GOA Accession(s)

GOSlim GOA Description

External References (max 3)

BioGRID Interaction data, The General Repository for Interaction Datasets ID

CCDS ID

ChEMBL ID

DataBase of Aberrant 3' Splice Sites name

DataBase of Aberrant 3' Splice Sites ID

DataBase of Aberrant 5' Splice Sites name

DataBase of Aberrant 5' Splice Sites ID

Ensembl Human Transcript ID

Ensembl Human Translation ID

EntrezGene transcript name ID

European Nucleotide Archive ID

Expression Atlas ID

GeneDB ID

HGNC ID

HGNC symbol

Human Protein Atlas accession

Human Protein Atlas ID

INSDC protein ID

KEGG Pathway and Enzyme ID

LRG display in Ensembl gene ID

LRG display in Ensembl transcript ID

MEROPS - the Peptidase Database ID

MIM gene description

MIM gene accession

MIM morbid description

MIM morbid accession

miRBase accession

miRBase ID

miRBase transcript name ID

NCBI gene (formerly Entrezgene) description

NCBI gene (formerly Entrezgene) accession

NCBI gene (formerly Entrezgene) ID

PDB ID

Reactome ID

Reactome gene ID

Reactome transcript ID

RefSeq mRNA ID

RefSeq mRNA predicted ID

RefSeq ncRNA ID

RefSeq ncRNA predicted ID

RefSeq peptide ID

RefSeq peptide predicted ID

RFAM ID

RFAM transcript name ID

RNAcentral ID

Transcript name ID

UCSC Stable ID

UniParc ID

UniProtKB Gene Name symbol

UniProtKB Gene Name ID

UniProtKB isoform ID

UniProtKB/Swiss-Prot ID

UniProtKB/TrEMBL ID

WikiGene description

WikiGene name

WikiGene ID

Microarray probes/probesets (max 2)

AFFY HC G110 probe

AFFY HG Focus probe

AFFY HG U133A probe

AFFY HG U133A 2 probe

AFFY HG U133B probe

AFFY HG U133 Plus 2 probe

AFFY HG U95A probe

AFFY HG U95Av2 probe

AFFY HG U95B probe

AFFY HG U95C probe

AFFY HG U95D probe

AFFY HG U95E probe

AFFY HTA 2 0 probe

AFFY HuEx 1 0 st v2 probe

AFFY HuGeneFL probe

AFFY HuGene 1 0 st v1 probe

AFFY HuGene 2 0 st v1 probe

AFFY PrimeView probe

AFFY U133 X3P probe

AGILENT CGH 44b probe

AGILENT GPL26966 probe

AGILENT GPL6848 probe

AGILENT SurePrint G3 GE 8x60k probe

AGILENT SurePrint G3 GE 8x60k v2 probe

AGILENT WholeGenome probe

AGILENT WholeGenome 4x44k v1 probe

AGILENT WholeGenome 4x44k v2 probe

CODELINK CODELINK probe

ILLUMINA HumanHT 12 V3 probe

ILLUMINA HumanHT 12 V4 probe

ILLUMINA HumanRef 8 V3 probe

ILLUMINA HumanWG 6 V1 probe

ILLUMINA HumanWG 6 V2 probe

ILLUMINA HumanWG 6 V3 probe

PHALANX OneArray probe

PROTEIN DOMAINS AND FAMILIES:

Domains

CDD ID

CDD start

CDD end

Gene3D ID

Gene3D start

Gene3D end

HAMAP ID

HAMAP start

HAMAP end

PANTHER ID

PANTHER start

PANTHER end

Pfam ID

Pfam start

Pfam end

PIRSF ID

PIRSF start

PIRSF end

Prints ID

Prints start

Prints end

PROSITE patterns ID

PROSITE patterns start

PROSITE patterns end

PROSITE profiles ID

PROSITE profiles start

PROSITE profiles end

SFLD ID

SFLD start

SFLD end

SMART ID

SMART start

SMART end

Superfamily ID

Superfamily start

Superfamily end

TIGRFAM ID

TIGRFAM start

TIGRFAM end

Interpro

Interpro ID

Interpro Short Description

Interpro Description

Interpro start

Interpro end

Protein features

MobiDB lite

MobiDB lite start

MobiDB lite end

Coiled-coils (Ncoils)

Coiled-coils (Ncoils) start

Coiled-coils (Ncoils) end

Low complexity (Seg)

Low complexity (Seg) start

Low complexity (Seg) end

PDB-ENSP mappings

PDB-ENSP mappings start

PDB-ENSP mappings end

Cleavage site (Signalp)

Cleavage site (Signalp) start

Cleavage site (Signalp) end

Transmembrane helices

Transmembrane helices start

Transmembrane helices end

GENE:

Ensembl

Gene stable ID

Gene stable ID version

Version (gene)

Transcript stable ID

Transcript stable ID version

Version (transcript)

Protein stable ID

Protein stable ID version

Version (protein)

Chromosome/scaffold name

Gene start (bp)

Gene end (bp)

Transcript start (bp)

Transcript end (bp)

Transcription start site (TSS)

Transcript length (including UTRs and CDS)

Strand

Gene name

Source of gene name

5' UTR start

5' UTR end

3' UTR start

3' UTR end

CDS Length

Transcript count

Gene description

Gene type

EXON:

Exon Information

Exon region start (bp)

Exon region end (bp)

Constitutive exon

Exon rank in transcript

Start phase

End phase

cDNA coding start

cDNA coding end

Genomic coding start

Genomic coding end

Exon stable ID

CDS start

CDS end

GENE:

Ensembl

Gene stable ID

Gene stable ID version

Version (gene)

Transcript stable ID

Transcript stable ID version

Version (transcript)

Protein stable ID

Protein stable ID version

Version (protein)

Chromosome/scaffold name

Gene start (bp)

Gene end (bp)

Strand

Karyotype band

Gene name

Source of gene name

Transcript count

Gene % GC content

Gene description

ORTHOLOGUES [A-E]:

Abingdon island giant tortoise Orthologues

Abingdon island giant tortoise gene stable ID

Abingdon island giant tortoise gene name

Abingdon island giant tortoise protein or transcript stable ID

Abingdon island giant tortoise chromosome/scaffold name

Abingdon island giant tortoise chromosome/scaffold start (bp)

Abingdon island giant tortoise chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Abingdon island giant tortoise

Abingdon island giant tortoise homology type

%id. target Abingdon island giant tortoise gene identical to query gene

%id. query gene identical to target Abingdon island giant tortoise gene

Abingdon island giant tortoise Gene-order conservation score

Abingdon island giant tortoise Whole-genome alignment coverage

Abingdon island giant tortoise orthology confidence [0 low, 1 high]

African ostrich Orthologues

African ostrich gene stable ID

African ostrich gene name

African ostrich protein or transcript stable ID

African ostrich chromosome/scaffold name

African ostrich chromosome/scaffold start (bp)

African ostrich chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with African ostrich

African ostrich homology type

%id. target African ostrich gene identical to query gene

%id. query gene identical to target African ostrich gene

African ostrich Gene-order conservation score

African ostrich Whole-genome alignment coverage

African ostrich orthology confidence [0 low, 1 high]

Algerian mouse Orthologues

Algerian mouse gene stable ID

Algerian mouse gene name

Algerian mouse protein or transcript stable ID

Algerian mouse chromosome/scaffold name

Algerian mouse chromosome/scaffold start (bp)

Algerian mouse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Algerian mouse

Algerian mouse homology type

%id. target Algerian mouse gene identical to query gene

%id. query gene identical to target Algerian mouse gene

Algerian mouse Gene-order conservation score

Algerian mouse Whole-genome alignment coverage

Algerian mouse orthology confidence [0 low, 1 high]

Alpaca Orthologues

Alpaca gene stable ID

Alpaca gene name

Alpaca protein or transcript stable ID

Alpaca chromosome/scaffold name

Alpaca chromosome/scaffold start (bp)

Alpaca chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Alpaca

Alpaca homology type

%id. target Alpaca gene identical to query gene

%id. query gene identical to target Alpaca gene

Alpaca Gene-order conservation score

Alpaca Whole-genome alignment coverage

Alpaca orthology confidence [0 low, 1 high]

Alpine marmot Orthologues

Alpine marmot gene stable ID

Alpine marmot gene name

Alpine marmot protein or transcript stable ID

Alpine marmot chromosome/scaffold name

Alpine marmot chromosome/scaffold start (bp)

Alpine marmot chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Alpine marmot

Alpine marmot homology type

%id. target Alpine marmot gene identical to query gene

%id. query gene identical to target Alpine marmot gene

Alpine marmot Gene-order conservation score

Alpine marmot Whole-genome alignment coverage

Alpine marmot orthology confidence [0 low, 1 high]

Amazon molly Orthologues

Amazon molly gene stable ID

Amazon molly gene name

Amazon molly protein or transcript stable ID

Amazon molly chromosome/scaffold name

Amazon molly chromosome/scaffold start (bp)

Amazon molly chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Amazon molly

Amazon molly homology type

%id. target Amazon molly gene identical to query gene

%id. query gene identical to target Amazon molly gene

Amazon molly Gene-order conservation score

Amazon molly Whole-genome alignment coverage

Amazon molly orthology confidence [0 low, 1 high]

American bison Orthologues

American bison gene stable ID

American bison gene name

American bison protein or transcript stable ID

American bison chromosome/scaffold name

American bison chromosome/scaffold start (bp)

American bison chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with American bison

American bison homology type

%id. target American bison gene identical to query gene

%id. query gene identical to target American bison gene

American bison Gene-order conservation score

American bison Whole-genome alignment coverage

American bison orthology confidence [0 low, 1 high]

American black bear Orthologues

American black bear gene stable ID

American black bear gene name

American black bear protein or transcript stable ID

American black bear chromosome/scaffold name

American black bear chromosome/scaffold start (bp)

American black bear chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with American black bear

American black bear homology type

%id. target American black bear gene identical to query gene

%id. query gene identical to target American black bear gene

American black bear Gene-order conservation score

American black bear Whole-genome alignment coverage

American black bear orthology confidence [0 low, 1 high]

American mink Orthologues

American mink gene stable ID

American mink gene name

American mink protein or transcript stable ID

American mink chromosome/scaffold name

American mink chromosome/scaffold start (bp)

American mink chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with American mink

American mink homology type

%id. target American mink gene identical to query gene

%id. query gene identical to target American mink gene

American mink Gene-order conservation score

American mink Whole-genome alignment coverage

American mink orthology confidence [0 low, 1 high]

Arabian camel Orthologues

Arabian camel gene stable ID

Arabian camel gene name

Arabian camel protein or transcript stable ID

Arabian camel chromosome/scaffold name

Arabian camel chromosome/scaffold start (bp)

Arabian camel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Arabian camel

Arabian camel homology type

%id. target Arabian camel gene identical to query gene

%id. query gene identical to target Arabian camel gene

Arabian camel Gene-order conservation score

Arabian camel Whole-genome alignment coverage

Arabian camel orthology confidence [0 low, 1 high]

Arctic ground squirrel Orthologues

Arctic ground squirrel gene stable ID

Arctic ground squirrel gene name

Arctic ground squirrel protein or transcript stable ID

Arctic ground squirrel chromosome/scaffold name

Arctic ground squirrel chromosome/scaffold start (bp)

Arctic ground squirrel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Arctic ground squirrel

Arctic ground squirrel homology type

%id. target Arctic ground squirrel gene identical to query gene

%id. query gene identical to target Arctic ground squirrel gene

Arctic ground squirrel Gene-order conservation score

Arctic ground squirrel Whole-genome alignment coverage

Arctic ground squirrel orthology confidence [0 low, 1 high]

Argentine black and white tegu Orthologues

Argentine black and white tegu gene stable ID

Argentine black and white tegu gene name

Argentine black and white tegu protein or transcript stable ID

Argentine black and white tegu chromosome/scaffold name

Argentine black and white tegu chromosome/scaffold start (bp)

Argentine black and white tegu chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Argentine black and white tegu

Argentine black and white tegu homology type

%id. target Argentine black and white tegu gene identical to query gene

%id. query gene identical to target Argentine black and white tegu gene

Argentine black and white tegu Gene-order conservation score

Argentine black and white tegu Whole-genome alignment coverage

Argentine black and white tegu orthology confidence [0 low, 1 high]

Armadillo Orthologues

Armadillo gene stable ID

Armadillo gene name

Armadillo protein or transcript stable ID

Armadillo chromosome/scaffold name

Armadillo chromosome/scaffold start (bp)

Armadillo chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Armadillo

Armadillo homology type

%id. target Armadillo gene identical to query gene

%id. query gene identical to target Armadillo gene

Armadillo Gene-order conservation score

Armadillo Whole-genome alignment coverage

Armadillo orthology confidence [0 low, 1 high]

Asian bonytongue Orthologues

Asian bonytongue gene stable ID

Asian bonytongue gene name

Asian bonytongue protein or transcript stable ID

Asian bonytongue chromosome/scaffold name

Asian bonytongue chromosome/scaffold start (bp)

Asian bonytongue chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Asian bonytongue

Asian bonytongue homology type

%id. target Asian bonytongue gene identical to query gene

%id. query gene identical to target Asian bonytongue gene

Asian bonytongue Gene-order conservation score

Asian bonytongue Whole-genome alignment coverage

Asian bonytongue orthology confidence [0 low, 1 high]

Atlantic cod Orthologues

Atlantic cod gene stable ID

Atlantic cod gene name

Atlantic cod protein or transcript stable ID

Atlantic cod chromosome/scaffold name

Atlantic cod chromosome/scaffold start (bp)

Atlantic cod chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Atlantic cod

Atlantic cod homology type

%id. target Atlantic cod gene identical to query gene

%id. query gene identical to target Atlantic cod gene

Atlantic cod Gene-order conservation score

Atlantic cod orthology confidence [0 low, 1 high]

Atlantic herring Orthologues

Atlantic herring gene stable ID

Atlantic herring gene name

Atlantic herring protein or transcript stable ID

Atlantic herring chromosome/scaffold name

Atlantic herring chromosome/scaffold start (bp)

Atlantic herring chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Atlantic herring

Atlantic herring homology type

%id. target Atlantic herring gene identical to query gene

%id. query gene identical to target Atlantic herring gene

Atlantic herring Gene-order conservation score

Atlantic herring Whole-genome alignment coverage

Atlantic herring orthology confidence [0 low, 1 high]

Atlantic salmon Orthologues

Atlantic salmon gene stable ID

Atlantic salmon gene name

Atlantic salmon protein or transcript stable ID

Atlantic salmon chromosome/scaffold name

Atlantic salmon chromosome/scaffold start (bp)

Atlantic salmon chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Atlantic salmon

Atlantic salmon homology type

%id. target Atlantic salmon gene identical to query gene

%id. query gene identical to target Atlantic salmon gene

Atlantic salmon Gene-order conservation score

Atlantic salmon Whole-genome alignment coverage

Atlantic salmon orthology confidence [0 low, 1 high]

Australian saltwater crocodile Orthologues

Australian saltwater crocodile gene stable ID

Australian saltwater crocodile gene name

Australian saltwater crocodile protein or transcript stable ID

Australian saltwater crocodile chromosome/scaffold name

Australian saltwater crocodile chromosome/scaffold start (bp)

Australian saltwater crocodile chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Australian saltwater crocodile

Australian saltwater crocodile homology type

%id. target Australian saltwater crocodile gene identical to query gene

%id. query gene identical to target Australian saltwater crocodile gene

Australian saltwater crocodile Gene-order conservation score

Australian saltwater crocodile Whole-genome alignment coverage

Australian saltwater crocodile orthology confidence [0 low, 1 high]

Ballan wrasse Orthologues

Ballan wrasse gene stable ID

Ballan wrasse gene name

Ballan wrasse protein or transcript stable ID

Ballan wrasse chromosome/scaffold name

Ballan wrasse chromosome/scaffold start (bp)

Ballan wrasse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Ballan wrasse

Ballan wrasse homology type

%id. target Ballan wrasse gene identical to query gene

%id. query gene identical to target Ballan wrasse gene

Ballan wrasse Gene-order conservation score

Ballan wrasse Whole-genome alignment coverage

Ballan wrasse orthology confidence [0 low, 1 high]

Barramundi perch Orthologues

Barramundi perch gene stable ID

Barramundi perch gene name

Barramundi perch protein or transcript stable ID

Barramundi perch chromosome/scaffold name

Barramundi perch chromosome/scaffold start (bp)

Barramundi perch chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Barramundi perch

Barramundi perch homology type

%id. target Barramundi perch gene identical to query gene

%id. query gene identical to target Barramundi perch gene

Barramundi perch Gene-order conservation score

Barramundi perch Whole-genome alignment coverage

Barramundi perch orthology confidence [0 low, 1 high]

Beluga whale Orthologues

Beluga whale gene stable ID

Beluga whale gene name

Beluga whale protein or transcript stable ID

Beluga whale chromosome/scaffold name

Beluga whale chromosome/scaffold start (bp)

Beluga whale chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Beluga whale

Beluga whale homology type

%id. target Beluga whale gene identical to query gene

%id. query gene identical to target Beluga whale gene

Beluga whale Gene-order conservation score

Beluga whale Whole-genome alignment coverage

Beluga whale orthology confidence [0 low, 1 high]

Bicolor damselfish Orthologues

Bicolor damselfish gene stable ID

Bicolor damselfish gene name

Bicolor damselfish protein or transcript stable ID

Bicolor damselfish chromosome/scaffold name

Bicolor damselfish chromosome/scaffold start (bp)

Bicolor damselfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Bicolor damselfish

Bicolor damselfish homology type

%id. target Bicolor damselfish gene identical to query gene

%id. query gene identical to target Bicolor damselfish gene

Bicolor damselfish Gene-order conservation score

Bicolor damselfish Whole-genome alignment coverage

Bicolor damselfish orthology confidence [0 low, 1 high]

Black snub-nosed monkey Orthologues

Black snub-nosed monkey gene stable ID

Black snub-nosed monkey gene name

Black snub-nosed monkey protein or transcript stable ID

Black snub-nosed monkey chromosome/scaffold name

Black snub-nosed monkey chromosome/scaffold start (bp)

Black snub-nosed monkey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Black snub-nosed monkey

Black snub-nosed monkey homology type

%id. target Black snub-nosed monkey gene identical to query gene

%id. query gene identical to target Black snub-nosed monkey gene

Black snub-nosed monkey Gene-order conservation score

Black snub-nosed monkey Whole-genome alignment coverage

Black snub-nosed monkey orthology confidence [0 low, 1 high]

Blue whale Orthologues

Blue whale gene stable ID

Blue whale gene name

Blue whale protein or transcript stable ID

Blue whale chromosome/scaffold name

Blue whale chromosome/scaffold start (bp)

Blue whale chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Blue whale

Blue whale homology type

%id. target Blue whale gene identical to query gene

%id. query gene identical to target Blue whale gene

Blue whale Gene-order conservation score

Blue whale Whole-genome alignment coverage

Blue whale orthology confidence [0 low, 1 high]

Blue-ringed sea krait Orthologues

Blue-ringed sea krait gene stable ID

Blue-ringed sea krait gene name

Blue-ringed sea krait protein or transcript stable ID

Blue-ringed sea krait chromosome/scaffold name

Blue-ringed sea krait chromosome/scaffold start (bp)

Blue-ringed sea krait chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Blue-ringed sea krait

Blue-ringed sea krait homology type

%id. target Blue-ringed sea krait gene identical to query gene

%id. query gene identical to target Blue-ringed sea krait gene

Blue-ringed sea krait Gene-order conservation score

Blue-ringed sea krait Whole-genome alignment coverage

Blue-ringed sea krait orthology confidence [0 low, 1 high]

Bolivian squirrel monkey Orthologues

Bolivian squirrel monkey gene stable ID

Bolivian squirrel monkey gene name

Bolivian squirrel monkey protein or transcript stable ID

Bolivian squirrel monkey chromosome/scaffold name

Bolivian squirrel monkey chromosome/scaffold start (bp)

Bolivian squirrel monkey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Bolivian squirrel monkey

Bolivian squirrel monkey homology type

%id. target Bolivian squirrel monkey gene identical to query gene

%id. query gene identical to target Bolivian squirrel monkey gene

Bolivian squirrel monkey Gene-order conservation score

Bolivian squirrel monkey Whole-genome alignment coverage

Bolivian squirrel monkey orthology confidence [0 low, 1 high]

Bonobo Orthologues

Bonobo gene stable ID

Bonobo gene name

Bonobo protein or transcript stable ID

Bonobo chromosome/scaffold name

Bonobo chromosome/scaffold start (bp)

Bonobo chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Bonobo

Bonobo homology type

%id. target Bonobo gene identical to query gene

%id. query gene identical to target Bonobo gene

Bonobo Gene-order conservation score

Bonobo Whole-genome alignment coverage

Bonobo orthology confidence [0 low, 1 high]

Brown trout Orthologues

Brown trout gene stable ID

Brown trout gene name

Brown trout protein or transcript stable ID

Brown trout chromosome/scaffold name

Brown trout chromosome/scaffold start (bp)

Brown trout chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Brown trout

Brown trout homology type

%id. target Brown trout gene identical to query gene

%id. query gene identical to target Brown trout gene

Brown trout Gene-order conservation score

Brown trout Whole-genome alignment coverage

Brown trout orthology confidence [0 low, 1 high]

Burton's mouthbrooder Orthologues

Burton's mouthbrooder gene stable ID

Burton's mouthbrooder gene name

Burton's mouthbrooder protein or transcript stable ID

Burton's mouthbrooder chromosome/scaffold name

Burton's mouthbrooder chromosome/scaffold start (bp)

Burton's mouthbrooder chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Burton's mouthbrooder

Burton's mouthbrooder homology type

%id. target Burton's mouthbrooder gene identical to query gene

%id. query gene identical to target Burton's mouthbrooder gene

Burton's mouthbrooder Gene-order conservation score

Burton's mouthbrooder Whole-genome alignment coverage

Burton's mouthbrooder orthology confidence [0 low, 1 high]

Bushbaby Orthologues

Bushbaby gene stable ID

Bushbaby gene name

Bushbaby protein or transcript stable ID

Bushbaby chromosome/scaffold name

Bushbaby chromosome/scaffold start (bp)

Bushbaby chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Bushbaby

Bushbaby homology type

%id. target Bushbaby gene identical to query gene

%id. query gene identical to target Bushbaby gene

Bushbaby Gene-order conservation score

Bushbaby Whole-genome alignment coverage

Bushbaby orthology confidence [0 low, 1 high]

C.intestinalis Orthologues

C.intestinalis gene stable ID

C.intestinalis gene name

C.intestinalis protein or transcript stable ID

C.intestinalis chromosome/scaffold name

C.intestinalis chromosome/scaffold start (bp)

C.intestinalis chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with C.intestinalis

C.intestinalis homology type

%id. target C.intestinalis gene identical to query gene

%id. query gene identical to target C.intestinalis gene

C.intestinalis Whole-genome alignment coverage

C.intestinalis orthology confidence [0 low, 1 high]

C.savignyi Orthologues

C.savignyi gene stable ID

C.savignyi gene name

C.savignyi protein or transcript stable ID

C.savignyi chromosome/scaffold name

C.savignyi chromosome/scaffold start (bp)

C.savignyi chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with C.savignyi

C.savignyi homology type

%id. target C.savignyi gene identical to query gene

%id. query gene identical to target C.savignyi gene

C.savignyi Whole-genome alignment coverage

C.savignyi orthology confidence [0 low, 1 high]

Caenorhabditis elegans Orthologues

Caenorhabditis elegans gene stable ID

Caenorhabditis elegans gene name

Caenorhabditis elegans protein or transcript stable ID

Caenorhabditis elegans chromosome/scaffold name

Caenorhabditis elegans chromosome/scaffold start (bp)

Caenorhabditis elegans chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Caenorhabditis elegans

Caenorhabditis elegans homology type

%id. target Caenorhabditis elegans gene identical to query gene

%id. query gene identical to target Caenorhabditis elegans gene

Caenorhabditis elegans orthology confidence [0 low, 1 high]

Cat Orthologues

Cat gene stable ID

Cat gene name

Cat protein or transcript stable ID

Cat chromosome/scaffold name

Cat chromosome/scaffold start (bp)

Cat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Cat

Cat homology type

%id. target Cat gene identical to query gene

%id. query gene identical to target Cat gene

Cat Gene-order conservation score

Cat Whole-genome alignment coverage

Cat orthology confidence [0 low, 1 high]

Chacoan peccary Orthologues

Chacoan peccary gene stable ID

Chacoan peccary gene name

Chacoan peccary protein or transcript stable ID

Chacoan peccary chromosome/scaffold name

Chacoan peccary chromosome/scaffold start (bp)

Chacoan peccary chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chacoan peccary

Chacoan peccary homology type

%id. target Chacoan peccary gene identical to query gene

%id. query gene identical to target Chacoan peccary gene

Chacoan peccary Gene-order conservation score

Chacoan peccary Whole-genome alignment coverage

Chacoan peccary orthology confidence [0 low, 1 high]

Channel bull blenny Orthologues

Channel bull blenny gene stable ID

Channel bull blenny gene name

Channel bull blenny protein or transcript stable ID

Channel bull blenny chromosome/scaffold name

Channel bull blenny chromosome/scaffold start (bp)

Channel bull blenny chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Channel bull blenny

Channel bull blenny homology type

%id. target Channel bull blenny gene identical to query gene

%id. query gene identical to target Channel bull blenny gene

Channel bull blenny Gene-order conservation score

Channel bull blenny Whole-genome alignment coverage

Channel bull blenny orthology confidence [0 low, 1 high]

Channel catfish Orthologues

Channel catfish gene stable ID

Channel catfish gene name

Channel catfish protein or transcript stable ID

Channel catfish chromosome/scaffold name

Channel catfish chromosome/scaffold start (bp)

Channel catfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Channel catfish

Channel catfish homology type

%id. target Channel catfish gene identical to query gene

%id. query gene identical to target Channel catfish gene

Channel catfish Gene-order conservation score

Channel catfish Whole-genome alignment coverage

Channel catfish orthology confidence [0 low, 1 high]

Chicken Orthologues

Chicken gene stable ID

Chicken gene name

Chicken protein or transcript stable ID

Chicken chromosome/scaffold name

Chicken chromosome/scaffold start (bp)

Chicken chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chicken

Chicken homology type

%id. target Chicken gene identical to query gene

%id. query gene identical to target Chicken gene

Chicken Gene-order conservation score

Chicken Whole-genome alignment coverage

Chicken orthology confidence [0 low, 1 high]

Chimpanzee Orthologues

Chimpanzee gene stable ID

Chimpanzee gene name

Chimpanzee protein or transcript stable ID

Chimpanzee chromosome/scaffold name

Chimpanzee chromosome/scaffold start (bp)

Chimpanzee chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chimpanzee

Chimpanzee homology type

%id. target Chimpanzee gene identical to query gene

%id. query gene identical to target Chimpanzee gene

Chimpanzee Gene-order conservation score

Chimpanzee Whole-genome alignment coverage

Chimpanzee orthology confidence [0 low, 1 high]

Chinese hamster CHOK1GS Orthologues

Chinese hamster CHOK1GS gene stable ID

Chinese hamster CHOK1GS gene name

Chinese hamster CHOK1GS protein or transcript stable ID

Chinese hamster CHOK1GS chromosome/scaffold name

Chinese hamster CHOK1GS chromosome/scaffold start (bp)

Chinese hamster CHOK1GS chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chinese hamster CHOK1GS

Chinese hamster CHOK1GS homology type

%id. target Chinese hamster CHOK1GS gene identical to query gene

%id. query gene identical to target Chinese hamster CHOK1GS gene

Chinese hamster CHOK1GS Gene-order conservation score

Chinese hamster CHOK1GS Whole-genome alignment coverage

Chinese hamster CHOK1GS orthology confidence [0 low, 1 high]

Chinese medaka Orthologues

Chinese medaka gene stable ID

Chinese medaka gene name

Chinese medaka protein or transcript stable ID

Chinese medaka chromosome/scaffold name

Chinese medaka chromosome/scaffold start (bp)

Chinese medaka chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chinese medaka

Chinese medaka homology type

%id. target Chinese medaka gene identical to query gene

%id. query gene identical to target Chinese medaka gene

Chinese medaka Gene-order conservation score

Chinese medaka Whole-genome alignment coverage

Chinese medaka orthology confidence [0 low, 1 high]

Chinese softshell turtle Orthologues

Chinese softshell turtle gene stable ID

Chinese softshell turtle gene name

Chinese softshell turtle protein or transcript stable ID

Chinese softshell turtle chromosome/scaffold name

Chinese softshell turtle chromosome/scaffold start (bp)

Chinese softshell turtle chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chinese softshell turtle

Chinese softshell turtle homology type

%id. target Chinese softshell turtle gene identical to query gene

%id. query gene identical to target Chinese softshell turtle gene

Chinese softshell turtle Gene-order conservation score

Chinese softshell turtle Whole-genome alignment coverage

Chinese softshell turtle orthology confidence [0 low, 1 high]

Chinook salmon Orthologues

Chinook salmon gene stable ID

Chinook salmon gene name

Chinook salmon protein or transcript stable ID

Chinook salmon chromosome/scaffold name

Chinook salmon chromosome/scaffold start (bp)

Chinook salmon chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Chinook salmon

Chinook salmon homology type

%id. target Chinook salmon gene identical to query gene

%id. query gene identical to target Chinook salmon gene

Chinook salmon Gene-order conservation score

Chinook salmon Whole-genome alignment coverage

Chinook salmon orthology confidence [0 low, 1 high]

Climbing perch Orthologues

Climbing perch gene stable ID

Climbing perch gene name

Climbing perch protein or transcript stable ID

Climbing perch chromosome/scaffold name

Climbing perch chromosome/scaffold start (bp)

Climbing perch chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Climbing perch

Climbing perch homology type

%id. target Climbing perch gene identical to query gene

%id. query gene identical to target Climbing perch gene

Climbing perch Gene-order conservation score

Climbing perch orthology confidence [0 low, 1 high]

Clown anemonefish Orthologues

Clown anemonefish gene stable ID

Clown anemonefish gene name

Clown anemonefish protein or transcript stable ID

Clown anemonefish chromosome/scaffold name

Clown anemonefish chromosome/scaffold start (bp)

Clown anemonefish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Clown anemonefish

Clown anemonefish homology type

%id. target Clown anemonefish gene identical to query gene

%id. query gene identical to target Clown anemonefish gene

Clown anemonefish Gene-order conservation score

Clown anemonefish Whole-genome alignment coverage

Clown anemonefish orthology confidence [0 low, 1 high]

Coelacanth Orthologues

Coelacanth gene stable ID

Coelacanth gene name

Coelacanth protein or transcript stable ID

Coelacanth chromosome/scaffold name

Coelacanth chromosome/scaffold start (bp)

Coelacanth chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Coelacanth

Coelacanth homology type

%id. target Coelacanth gene identical to query gene

%id. query gene identical to target Coelacanth gene

Coelacanth Gene-order conservation score

Coelacanth Whole-genome alignment coverage

Coelacanth orthology confidence [0 low, 1 high]

Coho salmon Orthologues

Coho salmon gene stable ID

Coho salmon gene name

Coho salmon protein or transcript stable ID

Coho salmon chromosome/scaffold name

Coho salmon chromosome/scaffold start (bp)

Coho salmon chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Coho salmon

Coho salmon homology type

%id. target Coho salmon gene identical to query gene

%id. query gene identical to target Coho salmon gene

Coho salmon Gene-order conservation score

Coho salmon Whole-genome alignment coverage

Coho salmon orthology confidence [0 low, 1 high]

Collared flycatcher Orthologues

Collared flycatcher gene stable ID

Collared flycatcher gene name

Collared flycatcher protein or transcript stable ID

Collared flycatcher chromosome/scaffold name

Collared flycatcher chromosome/scaffold start (bp)

Collared flycatcher chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Collared flycatcher

Collared flycatcher homology type

%id. target Collared flycatcher gene identical to query gene

%id. query gene identical to target Collared flycatcher gene

Collared flycatcher Gene-order conservation score

Collared flycatcher orthology confidence [0 low, 1 high]

Common canary Orthologues

Common canary gene stable ID

Common canary gene name

Common canary protein or transcript stable ID

Common canary chromosome/scaffold name

Common canary chromosome/scaffold start (bp)

Common canary chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Common canary

Common canary homology type

%id. target Common canary gene identical to query gene

%id. query gene identical to target Common canary gene

Common canary Gene-order conservation score

Common canary Whole-genome alignment coverage

Common canary orthology confidence [0 low, 1 high]

Common carp Orthologues

Common carp gene stable ID

Common carp gene name

Common carp protein or transcript stable ID

Common carp chromosome/scaffold name

Common carp chromosome/scaffold start (bp)

Common carp chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Common carp

Common carp homology type

%id. target Common carp gene identical to query gene

%id. query gene identical to target Common carp gene

Common carp Gene-order conservation score

Common carp Whole-genome alignment coverage

Common carp orthology confidence [0 low, 1 high]

Common wall lizard Orthologues

Common wall lizard gene stable ID

Common wall lizard gene name

Common wall lizard protein or transcript stable ID

Common wall lizard chromosome/scaffold name

Common wall lizard chromosome/scaffold start (bp)

Common wall lizard chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Common wall lizard

Common wall lizard homology type

%id. target Common wall lizard gene identical to query gene

%id. query gene identical to target Common wall lizard gene

Common wall lizard Gene-order conservation score

Common wall lizard Whole-genome alignment coverage

Common wall lizard orthology confidence [0 low, 1 high]

Common wombat Orthologues

Common wombat gene stable ID

Common wombat gene name

Common wombat protein or transcript stable ID

Common wombat chromosome/scaffold name

Common wombat chromosome/scaffold start (bp)

Common wombat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Common wombat

Common wombat homology type

%id. target Common wombat gene identical to query gene

%id. query gene identical to target Common wombat gene

Common wombat Gene-order conservation score

Common wombat Whole-genome alignment coverage

Common wombat orthology confidence [0 low, 1 high]

Coquerel's sifaka Orthologues

Coquerel's sifaka gene stable ID

Coquerel's sifaka gene name

Coquerel's sifaka protein or transcript stable ID

Coquerel's sifaka chromosome/scaffold name

Coquerel's sifaka chromosome/scaffold start (bp)

Coquerel's sifaka chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Coquerel's sifaka

Coquerel's sifaka homology type

%id. target Coquerel's sifaka gene identical to query gene

%id. query gene identical to target Coquerel's sifaka gene

Coquerel's sifaka Gene-order conservation score

Coquerel's sifaka Whole-genome alignment coverage

Coquerel's sifaka orthology confidence [0 low, 1 high]

Cow Orthologues

Cow gene stable ID

Cow gene name

Cow protein or transcript stable ID

Cow chromosome/scaffold name

Cow chromosome/scaffold start (bp)

Cow chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Cow

Cow homology type

%id. target Cow gene identical to query gene

%id. query gene identical to target Cow gene

Cow Gene-order conservation score

Cow Whole-genome alignment coverage

Cow orthology confidence [0 low, 1 high]

Crab-eating macaque Orthologues

Crab-eating macaque gene stable ID

Crab-eating macaque gene name

Crab-eating macaque protein or transcript stable ID

Crab-eating macaque chromosome/scaffold name

Crab-eating macaque chromosome/scaffold start (bp)

Crab-eating macaque chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Crab-eating macaque

Crab-eating macaque homology type

%id. target Crab-eating macaque gene identical to query gene

%id. query gene identical to target Crab-eating macaque gene

Crab-eating macaque Gene-order conservation score

Crab-eating macaque Whole-genome alignment coverage

Crab-eating macaque orthology confidence [0 low, 1 high]

Degu Orthologues

Degu gene stable ID

Degu gene name

Degu protein or transcript stable ID

Degu chromosome/scaffold name

Degu chromosome/scaffold start (bp)

Degu chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Degu

Degu homology type

%id. target Degu gene identical to query gene

%id. query gene identical to target Degu gene

Degu Gene-order conservation score

Degu Whole-genome alignment coverage

Degu orthology confidence [0 low, 1 high]

Denticle herring Orthologues

Denticle herring gene stable ID

Denticle herring gene name

Denticle herring protein or transcript stable ID

Denticle herring chromosome/scaffold name

Denticle herring chromosome/scaffold start (bp)

Denticle herring chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Denticle herring

Denticle herring homology type

%id. target Denticle herring gene identical to query gene

%id. query gene identical to target Denticle herring gene

Denticle herring Gene-order conservation score

Denticle herring Whole-genome alignment coverage

Denticle herring orthology confidence [0 low, 1 high]

Dingo Orthologues

Dingo gene stable ID

Dingo gene name

Dingo protein or transcript stable ID

Dingo chromosome/scaffold name

Dingo chromosome/scaffold start (bp)

Dingo chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Dingo

Dingo homology type

%id. target Dingo gene identical to query gene

%id. query gene identical to target Dingo gene

Dingo Gene-order conservation score

Dingo Whole-genome alignment coverage

Dingo orthology confidence [0 low, 1 high]

Dog Orthologues

Dog gene stable ID

Dog gene name

Dog protein or transcript stable ID

Dog chromosome/scaffold name

Dog chromosome/scaffold start (bp)

Dog chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Dog

Dog homology type

%id. target Dog gene identical to query gene

%id. query gene identical to target Dog gene

Dog Gene-order conservation score

Dog Whole-genome alignment coverage

Dog orthology confidence [0 low, 1 high]

Dolphin Orthologues

Dolphin gene stable ID

Dolphin gene name

Dolphin protein or transcript stable ID

Dolphin chromosome/scaffold name

Dolphin chromosome/scaffold start (bp)

Dolphin chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Dolphin

Dolphin homology type

%id. target Dolphin gene identical to query gene

%id. query gene identical to target Dolphin gene

Dolphin Gene-order conservation score

Dolphin Whole-genome alignment coverage

Dolphin orthology confidence [0 low, 1 high]

Domestic yak Orthologues

Domestic yak gene stable ID

Domestic yak gene name

Domestic yak protein or transcript stable ID

Domestic yak chromosome/scaffold name

Domestic yak chromosome/scaffold start (bp)

Domestic yak chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Domestic yak

Domestic yak homology type

%id. target Domestic yak gene identical to query gene

%id. query gene identical to target Domestic yak gene

Domestic yak Gene-order conservation score

Domestic yak Whole-genome alignment coverage

Domestic yak orthology confidence [0 low, 1 high]

Donkey Orthologues

Donkey gene stable ID

Donkey gene name

Donkey protein or transcript stable ID

Donkey chromosome/scaffold name

Donkey chromosome/scaffold start (bp)

Donkey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Donkey

Donkey homology type

%id. target Donkey gene identical to query gene

%id. query gene identical to target Donkey gene

Donkey Gene-order conservation score

Donkey Whole-genome alignment coverage

Donkey orthology confidence [0 low, 1 high]

Drill Orthologues

Drill gene stable ID

Drill gene name

Drill protein or transcript stable ID

Drill chromosome/scaffold name

Drill chromosome/scaffold start (bp)

Drill chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Drill

Drill homology type

%id. target Drill gene identical to query gene

%id. query gene identical to target Drill gene

Drill Gene-order conservation score

Drill Whole-genome alignment coverage

Drill orthology confidence [0 low, 1 high]

Drosophila melanogaster Orthologues

Drosophila melanogaster gene stable ID

Drosophila melanogaster gene name

Drosophila melanogaster protein or transcript stable ID

Drosophila melanogaster chromosome/scaffold name

Drosophila melanogaster chromosome/scaffold start (bp)

Drosophila melanogaster chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Drosophila melanogaster

Drosophila melanogaster homology type

%id. target Drosophila melanogaster gene identical to query gene

%id. query gene identical to target Drosophila melanogaster gene

Drosophila melanogaster orthology confidence [0 low, 1 high]

Duck Orthologues

Duck gene stable ID

Duck gene name

Duck protein or transcript stable ID

Duck chromosome/scaffold name

Duck chromosome/scaffold start (bp)

Duck chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Duck

Duck homology type

%id. target Duck gene identical to query gene

%id. query gene identical to target Duck gene

Duck Gene-order conservation score

Duck Whole-genome alignment coverage

Duck orthology confidence [0 low, 1 high]

Eastern brown snake Orthologues

Eastern brown snake gene stable ID

Eastern brown snake gene name

Eastern brown snake protein or transcript stable ID

Eastern brown snake chromosome/scaffold name

Eastern brown snake chromosome/scaffold start (bp)

Eastern brown snake chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Eastern brown snake

Eastern brown snake homology type

%id. target Eastern brown snake gene identical to query gene

%id. query gene identical to target Eastern brown snake gene

Eastern brown snake Gene-order conservation score

Eastern brown snake Whole-genome alignment coverage

Eastern brown snake orthology confidence [0 low, 1 high]

Eastern happy Orthologues

Eastern happy gene stable ID

Eastern happy gene name

Eastern happy protein or transcript stable ID

Eastern happy chromosome/scaffold name

Eastern happy chromosome/scaffold start (bp)

Eastern happy chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Eastern happy

Eastern happy homology type

%id. target Eastern happy gene identical to query gene

%id. query gene identical to target Eastern happy gene

Eastern happy Gene-order conservation score

Eastern happy Whole-genome alignment coverage

Eastern happy orthology confidence [0 low, 1 high]

Electric eel Orthologues

Electric eel gene stable ID

Electric eel gene name

Electric eel protein or transcript stable ID

Electric eel chromosome/scaffold name

Electric eel chromosome/scaffold start (bp)

Electric eel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Electric eel

Electric eel homology type

%id. target Electric eel gene identical to query gene

%id. query gene identical to target Electric eel gene

Electric eel Gene-order conservation score

Electric eel Whole-genome alignment coverage

Electric eel orthology confidence [0 low, 1 high]

Elephant Orthologues

Elephant gene stable ID

Elephant gene name

Elephant protein or transcript stable ID

Elephant chromosome/scaffold name

Elephant chromosome/scaffold start (bp)

Elephant chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Elephant

Elephant homology type

%id. target Elephant gene identical to query gene

%id. query gene identical to target Elephant gene

Elephant Gene-order conservation score

Elephant Whole-genome alignment coverage

Elephant orthology confidence [0 low, 1 high]

Elephant shark Orthologues

Elephant shark gene stable ID

Elephant shark gene name

Elephant shark protein or transcript stable ID

Elephant shark chromosome/scaffold name

Elephant shark chromosome/scaffold start (bp)

Elephant shark chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Elephant shark

Elephant shark homology type

%id. target Elephant shark gene identical to query gene

%id. query gene identical to target Elephant shark gene

Elephant shark Whole-genome alignment coverage

Elephant shark orthology confidence [0 low, 1 high]

Eurasian red squirrel Orthologues

Eurasian red squirrel gene stable ID

Eurasian red squirrel gene name

Eurasian red squirrel protein or transcript stable ID

Eurasian red squirrel chromosome/scaffold name

Eurasian red squirrel chromosome/scaffold start (bp)

Eurasian red squirrel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Eurasian red squirrel

Eurasian red squirrel homology type

%id. target Eurasian red squirrel gene identical to query gene

%id. query gene identical to target Eurasian red squirrel gene

Eurasian red squirrel Gene-order conservation score

Eurasian red squirrel Whole-genome alignment coverage

Eurasian red squirrel orthology confidence [0 low, 1 high]

European seabass Orthologues

European seabass gene stable ID

European seabass gene name

European seabass protein or transcript stable ID

European seabass chromosome/scaffold name

European seabass chromosome/scaffold start (bp)

European seabass chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with European seabass

European seabass homology type

%id. target European seabass gene identical to query gene

%id. query gene identical to target European seabass gene

European seabass Gene-order conservation score

European seabass Whole-genome alignment coverage

European seabass orthology confidence [0 low, 1 high]

ORTHOLOGUES [F-J]:

Ferret Orthologues

Ferret gene stable ID

Ferret gene name

Ferret protein or transcript stable ID

Ferret chromosome/scaffold name

Ferret chromosome/scaffold start (bp)

Ferret chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Ferret

Ferret homology type

%id. target Ferret gene identical to query gene

%id. query gene identical to target Ferret gene

Ferret Gene-order conservation score

Ferret Whole-genome alignment coverage

Ferret orthology confidence [0 low, 1 high]

Fugu Orthologues

Fugu gene stable ID

Fugu gene name

Fugu protein or transcript stable ID

Fugu chromosome/scaffold name

Fugu chromosome/scaffold start (bp)

Fugu chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Fugu

Fugu homology type

%id. target Fugu gene identical to query gene

%id. query gene identical to target Fugu gene

Fugu Gene-order conservation score

Fugu Whole-genome alignment coverage

Fugu orthology confidence [0 low, 1 high]

Giant panda Orthologues

Giant panda gene stable ID

Giant panda gene name

Giant panda protein or transcript stable ID

Giant panda chromosome/scaffold name

Giant panda chromosome/scaffold start (bp)

Giant panda chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Giant panda

Giant panda homology type

%id. target Giant panda gene identical to query gene

%id. query gene identical to target Giant panda gene

Giant panda Gene-order conservation score

Giant panda orthology confidence [0 low, 1 high]

Gibbon Orthologues

Gibbon gene stable ID

Gibbon gene name

Gibbon protein or transcript stable ID

Gibbon chromosome/scaffold name

Gibbon chromosome/scaffold start (bp)

Gibbon chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Gibbon

Gibbon homology type

%id. target Gibbon gene identical to query gene

%id. query gene identical to target Gibbon gene

Gibbon Gene-order conservation score

Gibbon Whole-genome alignment coverage

Gibbon orthology confidence [0 low, 1 high]

Gilthead seabream Orthologues

Gilthead seabream gene stable ID

Gilthead seabream gene name

Gilthead seabream protein or transcript stable ID

Gilthead seabream chromosome/scaffold name

Gilthead seabream chromosome/scaffold start (bp)

Gilthead seabream chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Gilthead seabream

Gilthead seabream homology type

%id. target Gilthead seabream gene identical to query gene

%id. query gene identical to target Gilthead seabream gene

Gilthead seabream Gene-order conservation score

Gilthead seabream Whole-genome alignment coverage

Gilthead seabream orthology confidence [0 low, 1 high]

Goat Orthologues

Goat gene stable ID

Goat gene name

Goat protein or transcript stable ID

Goat chromosome/scaffold name

Goat chromosome/scaffold start (bp)

Goat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Goat

Goat homology type

%id. target Goat gene identical to query gene

%id. query gene identical to target Goat gene

Goat Gene-order conservation score

Goat Whole-genome alignment coverage

Goat orthology confidence [0 low, 1 high]

Golden Hamster Orthologues

Golden Hamster gene stable ID

Golden Hamster gene name

Golden Hamster protein or transcript stable ID

Golden Hamster chromosome/scaffold name

Golden Hamster chromosome/scaffold start (bp)

Golden Hamster chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Golden Hamster

Golden Hamster homology type

%id. target Golden Hamster gene identical to query gene

%id. query gene identical to target Golden Hamster gene

Golden Hamster Gene-order conservation score

Golden Hamster Whole-genome alignment coverage

Golden Hamster orthology confidence [0 low, 1 high]

Golden eagle Orthologues

Golden eagle gene stable ID

Golden eagle gene name

Golden eagle protein or transcript stable ID

Golden eagle chromosome/scaffold name

Golden eagle chromosome/scaffold start (bp)

Golden eagle chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Golden eagle

Golden eagle homology type

%id. target Golden eagle gene identical to query gene

%id. query gene identical to target Golden eagle gene

Golden eagle Gene-order conservation score

Golden eagle Whole-genome alignment coverage

Golden eagle orthology confidence [0 low, 1 high]

Golden snub-nosed monkey Orthologues

Golden snub-nosed monkey gene stable ID

Golden snub-nosed monkey gene name

Golden snub-nosed monkey protein or transcript stable ID

Golden snub-nosed monkey chromosome/scaffold name

Golden snub-nosed monkey chromosome/scaffold start (bp)

Golden snub-nosed monkey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Golden snub-nosed monkey

Golden snub-nosed monkey homology type

%id. target Golden snub-nosed monkey gene identical to query gene

%id. query gene identical to target Golden snub-nosed monkey gene

Golden snub-nosed monkey Gene-order conservation score

Golden snub-nosed monkey Whole-genome alignment coverage

Golden snub-nosed monkey orthology confidence [0 low, 1 high]

Golden-line barbel Orthologues

Golden-line barbel gene stable ID

Golden-line barbel gene name

Golden-line barbel protein or transcript stable ID

Golden-line barbel chromosome/scaffold name

Golden-line barbel chromosome/scaffold start (bp)

Golden-line barbel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Golden-line barbel

Golden-line barbel homology type

%id. target Golden-line barbel gene identical to query gene

%id. query gene identical to target Golden-line barbel gene

Golden-line barbel Gene-order conservation score

Golden-line barbel Whole-genome alignment coverage

Golden-line barbel orthology confidence [0 low, 1 high]

Goldfish Orthologues

Goldfish gene stable ID

Goldfish gene name

Goldfish protein or transcript stable ID

Goldfish chromosome/scaffold name

Goldfish chromosome/scaffold start (bp)

Goldfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Goldfish

Goldfish homology type

%id. target Goldfish gene identical to query gene

%id. query gene identical to target Goldfish gene

Goldfish Gene-order conservation score

Goldfish Whole-genome alignment coverage

Goldfish orthology confidence [0 low, 1 high]

Goodes thornscrub tortoise Orthologues

Goodes thornscrub tortoise gene stable ID

Goodes thornscrub tortoise gene name

Goodes thornscrub tortoise protein or transcript stable ID

Goodes thornscrub tortoise chromosome/scaffold name

Goodes thornscrub tortoise chromosome/scaffold start (bp)

Goodes thornscrub tortoise chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Goodes thornscrub tortoise

Goodes thornscrub tortoise homology type

%id. target Goodes thornscrub tortoise gene identical to query gene

%id. query gene identical to target Goodes thornscrub tortoise gene

Goodes thornscrub tortoise Gene-order conservation score

Goodes thornscrub tortoise Whole-genome alignment coverage

Goodes thornscrub tortoise orthology confidence [0 low, 1 high]

Gorilla Orthologues

Gorilla gene stable ID

Gorilla gene name

Gorilla protein or transcript stable ID

Gorilla chromosome/scaffold name

Gorilla chromosome/scaffold start (bp)

Gorilla chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Gorilla

Gorilla homology type

%id. target Gorilla gene identical to query gene

%id. query gene identical to target Gorilla gene

Gorilla Gene-order conservation score

Gorilla Whole-genome alignment coverage

Gorilla orthology confidence [0 low, 1 high]

Great Tit Orthologues

Great Tit gene stable ID

Great Tit gene name

Great Tit protein or transcript stable ID

Great Tit chromosome/scaffold name

Great Tit chromosome/scaffold start (bp)

Great Tit chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Great Tit

Great Tit homology type

%id. target Great Tit gene identical to query gene

%id. query gene identical to target Great Tit gene

Great Tit Gene-order conservation score

Great Tit Whole-genome alignment coverage

Great Tit orthology confidence [0 low, 1 high]

Greater amberjack Orthologues

Greater amberjack gene stable ID

Greater amberjack gene name

Greater amberjack protein or transcript stable ID

Greater amberjack chromosome/scaffold name

Greater amberjack chromosome/scaffold start (bp)

Greater amberjack chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Greater amberjack

Greater amberjack homology type

%id. target Greater amberjack gene identical to query gene

%id. query gene identical to target Greater amberjack gene

Greater amberjack Gene-order conservation score

Greater amberjack Whole-genome alignment coverage

Greater amberjack orthology confidence [0 low, 1 high]

Greater bamboo lemur Orthologues

Greater bamboo lemur gene stable ID

Greater bamboo lemur gene name

Greater bamboo lemur protein or transcript stable ID

Greater bamboo lemur chromosome/scaffold name

Greater bamboo lemur chromosome/scaffold start (bp)

Greater bamboo lemur chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Greater bamboo lemur

Greater bamboo lemur homology type

%id. target Greater bamboo lemur gene identical to query gene

%id. query gene identical to target Greater bamboo lemur gene

Greater bamboo lemur Gene-order conservation score

Greater bamboo lemur Whole-genome alignment coverage

Greater bamboo lemur orthology confidence [0 low, 1 high]

Greater horseshoe bat Orthologues

Greater horseshoe bat gene stable ID

Greater horseshoe bat gene name

Greater horseshoe bat protein or transcript stable ID

Greater horseshoe bat chromosome/scaffold name

Greater horseshoe bat chromosome/scaffold start (bp)

Greater horseshoe bat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Greater horseshoe bat

Greater horseshoe bat homology type

%id. target Greater horseshoe bat gene identical to query gene

%id. query gene identical to target Greater horseshoe bat gene

Greater horseshoe bat Gene-order conservation score

Greater horseshoe bat Whole-genome alignment coverage

Greater horseshoe bat orthology confidence [0 low, 1 high]

Green anole Orthologues

Green anole gene stable ID

Green anole gene name

Green anole protein or transcript stable ID

Green anole chromosome/scaffold name

Green anole chromosome/scaffold start (bp)

Green anole chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Green anole

Green anole homology type

%id. target Green anole gene identical to query gene

%id. query gene identical to target Green anole gene

Green anole Gene-order conservation score

Green anole orthology confidence [0 low, 1 high]

Guinea Pig Orthologues

Guinea Pig gene stable ID

Guinea Pig gene name

Guinea Pig protein or transcript stable ID

Guinea Pig chromosome/scaffold name

Guinea Pig chromosome/scaffold start (bp)

Guinea Pig chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Guinea Pig

Guinea Pig homology type

%id. target Guinea Pig gene identical to query gene

%id. query gene identical to target Guinea Pig gene

Guinea Pig Gene-order conservation score

Guinea Pig Whole-genome alignment coverage

Guinea Pig orthology confidence [0 low, 1 high]

Guppy Orthologues

Guppy gene stable ID

Guppy gene name

Guppy protein or transcript stable ID

Guppy chromosome/scaffold name

Guppy chromosome/scaffold start (bp)

Guppy chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Guppy

Guppy homology type

%id. target Guppy gene identical to query gene

%id. query gene identical to target Guppy gene

Guppy Gene-order conservation score

Guppy Whole-genome alignment coverage

Guppy orthology confidence [0 low, 1 high]

Hagfish Orthologues

Hagfish gene stable ID

Hagfish gene name

Hagfish protein or transcript stable ID

Hagfish chromosome/scaffold name

Hagfish chromosome/scaffold start (bp)

Hagfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Hagfish

Hagfish homology type

%id. target Hagfish gene identical to query gene

%id. query gene identical to target Hagfish gene

Hagfish Whole-genome alignment coverage

Hagfish orthology confidence [0 low, 1 high]

Hedgehog Orthologues

Hedgehog gene stable ID

Hedgehog gene name

Hedgehog protein or transcript stable ID

Hedgehog chromosome/scaffold name

Hedgehog chromosome/scaffold start (bp)

Hedgehog chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Hedgehog

Hedgehog homology type

%id. target Hedgehog gene identical to query gene

%id. query gene identical to target Hedgehog gene

Hedgehog Gene-order conservation score

Hedgehog Whole-genome alignment coverage

Hedgehog orthology confidence [0 low, 1 high]

Horse Orthologues

Horse gene stable ID

Horse gene name

Horse protein or transcript stable ID

Horse chromosome/scaffold name

Horse chromosome/scaffold start (bp)

Horse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Horse

Horse homology type

%id. target Horse gene identical to query gene

%id. query gene identical to target Horse gene

Horse Gene-order conservation score

Horse Whole-genome alignment coverage

Horse orthology confidence [0 low, 1 high]

Huchen Orthologues

Huchen gene stable ID

Huchen gene name

Huchen protein or transcript stable ID

Huchen chromosome/scaffold name

Huchen chromosome/scaffold start (bp)

Huchen chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Huchen

Huchen homology type

%id. target Huchen gene identical to query gene

%id. query gene identical to target Huchen gene

Huchen Gene-order conservation score

Huchen Whole-genome alignment coverage

Huchen orthology confidence [0 low, 1 high]

Hybrid - Bos Indicus Orthologues

Hybrid - Bos Indicus gene stable ID

Hybrid - Bos Indicus gene name

Hybrid - Bos Indicus protein or transcript stable ID

Hybrid - Bos Indicus chromosome/scaffold name

Hybrid - Bos Indicus chromosome/scaffold start (bp)

Hybrid - Bos Indicus chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Hybrid - Bos Indicus

Hybrid - Bos Indicus homology type

%id. target Hybrid - Bos Indicus gene identical to query gene

%id. query gene identical to target Hybrid - Bos Indicus gene

Hybrid - Bos Indicus Gene-order conservation score

Hybrid - Bos Indicus Whole-genome alignment coverage

Hybrid - Bos Indicus orthology confidence [0 low, 1 high]

Hyrax Orthologues

Hyrax gene stable ID

Hyrax gene name

Hyrax protein or transcript stable ID

Hyrax chromosome/scaffold name

Hyrax chromosome/scaffold start (bp)

Hyrax chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Hyrax

Hyrax homology type

%id. target Hyrax gene identical to query gene

%id. query gene identical to target Hyrax gene

Hyrax Gene-order conservation score

Hyrax Whole-genome alignment coverage

Hyrax orthology confidence [0 low, 1 high]

Indian cobra Orthologues

Indian cobra gene stable ID

Indian cobra gene name

Indian cobra protein or transcript stable ID

Indian cobra chromosome/scaffold name

Indian cobra chromosome/scaffold start (bp)

Indian cobra chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Indian cobra

Indian cobra homology type

%id. target Indian cobra gene identical to query gene

%id. query gene identical to target Indian cobra gene

Indian cobra Gene-order conservation score

Indian cobra Whole-genome alignment coverage

Indian cobra orthology confidence [0 low, 1 high]

Indian medaka Orthologues

Indian medaka gene stable ID

Indian medaka gene name

Indian medaka protein or transcript stable ID

Indian medaka chromosome/scaffold name

Indian medaka chromosome/scaffold start (bp)

Indian medaka chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Indian medaka

Indian medaka homology type

%id. target Indian medaka gene identical to query gene

%id. query gene identical to target Indian medaka gene

Indian medaka Gene-order conservation score

Indian medaka Whole-genome alignment coverage

Indian medaka orthology confidence [0 low, 1 high]

Japanese medaka HdrR Orthologues

Japanese medaka HdrR gene stable ID

Japanese medaka HdrR gene name

Japanese medaka HdrR protein or transcript stable ID

Japanese medaka HdrR chromosome/scaffold name

Japanese medaka HdrR chromosome/scaffold start (bp)

Japanese medaka HdrR chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Japanese medaka HdrR

Japanese medaka HdrR homology type

%id. target Japanese medaka HdrR gene identical to query gene

%id. query gene identical to target Japanese medaka HdrR gene

Japanese medaka HdrR Gene-order conservation score

Japanese medaka HdrR Whole-genome alignment coverage

Japanese medaka HdrR orthology confidence [0 low, 1 high]

Japanese quail Orthologues

Japanese quail gene stable ID

Japanese quail gene name

Japanese quail protein or transcript stable ID

Japanese quail chromosome/scaffold name

Japanese quail chromosome/scaffold start (bp)

Japanese quail chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Japanese quail

Japanese quail homology type

%id. target Japanese quail gene identical to query gene

%id. query gene identical to target Japanese quail gene

Japanese quail Gene-order conservation score

Japanese quail Whole-genome alignment coverage

Japanese quail orthology confidence [0 low, 1 high]

Javanese ricefish Orthologues

Javanese ricefish gene stable ID

Javanese ricefish gene name

Javanese ricefish protein or transcript stable ID

Javanese ricefish chromosome/scaffold name

Javanese ricefish chromosome/scaffold start (bp)

Javanese ricefish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Javanese ricefish

Javanese ricefish homology type

%id. target Javanese ricefish gene identical to query gene

%id. query gene identical to target Javanese ricefish gene

Javanese ricefish Gene-order conservation score

Javanese ricefish Whole-genome alignment coverage

Javanese ricefish orthology confidence [0 low, 1 high]

ORTHOLOGUES [K-O]:

Kakapo Orthologues

Kakapo gene stable ID

Kakapo gene name

Kakapo protein or transcript stable ID

Kakapo chromosome/scaffold name

Kakapo chromosome/scaffold start (bp)

Kakapo chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Kakapo

Kakapo homology type

%id. target Kakapo gene identical to query gene

%id. query gene identical to target Kakapo gene

Kakapo Gene-order conservation score

Kakapo Whole-genome alignment coverage

Kakapo orthology confidence [0 low, 1 high]

Kangaroo rat Orthologues

Kangaroo rat gene stable ID

Kangaroo rat gene name

Kangaroo rat protein or transcript stable ID

Kangaroo rat chromosome/scaffold name

Kangaroo rat chromosome/scaffold start (bp)

Kangaroo rat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Kangaroo rat

Kangaroo rat homology type

%id. target Kangaroo rat gene identical to query gene

%id. query gene identical to target Kangaroo rat gene

Kangaroo rat Gene-order conservation score

Kangaroo rat Whole-genome alignment coverage

Kangaroo rat orthology confidence [0 low, 1 high]

Koala Orthologues

Koala gene stable ID

Koala gene name

Koala protein or transcript stable ID

Koala chromosome/scaffold name

Koala chromosome/scaffold start (bp)

Koala chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Koala

Koala homology type

%id. target Koala gene identical to query gene

%id. query gene identical to target Koala gene

Koala Gene-order conservation score

Koala Whole-genome alignment coverage

Koala orthology confidence [0 low, 1 high]

Lamprey Orthologues

Lamprey gene stable ID

Lamprey gene name

Lamprey protein or transcript stable ID

Lamprey chromosome/scaffold name

Lamprey chromosome/scaffold start (bp)

Lamprey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Lamprey

Lamprey homology type

%id. target Lamprey gene identical to query gene

%id. query gene identical to target Lamprey gene

Lamprey Whole-genome alignment coverage

Lamprey orthology confidence [0 low, 1 high]

Large yellow croaker Orthologues

Large yellow croaker gene stable ID

Large yellow croaker gene name

Large yellow croaker protein or transcript stable ID

Large yellow croaker chromosome/scaffold name

Large yellow croaker chromosome/scaffold start (bp)

Large yellow croaker chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Large yellow croaker

Large yellow croaker homology type

%id. target Large yellow croaker gene identical to query gene

%id. query gene identical to target Large yellow croaker gene

Large yellow croaker Gene-order conservation score

Large yellow croaker Whole-genome alignment coverage

Large yellow croaker orthology confidence [0 low, 1 high]

Leishan spiny toad Orthologues

Leishan spiny toad gene stable ID

Leishan spiny toad gene name

Leishan spiny toad protein or transcript stable ID

Leishan spiny toad chromosome/scaffold name

Leishan spiny toad chromosome/scaffold start (bp)

Leishan spiny toad chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Leishan spiny toad

Leishan spiny toad homology type

%id. target Leishan spiny toad gene identical to query gene

%id. query gene identical to target Leishan spiny toad gene

Leishan spiny toad Gene-order conservation score

Leishan spiny toad Whole-genome alignment coverage

Leishan spiny toad orthology confidence [0 low, 1 high]

Leopard Orthologues

Leopard gene stable ID

Leopard gene name

Leopard protein or transcript stable ID

Leopard chromosome/scaffold name

Leopard chromosome/scaffold start (bp)

Leopard chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Leopard

Leopard homology type

%id. target Leopard gene identical to query gene

%id. query gene identical to target Leopard gene

Leopard Gene-order conservation score

Leopard Whole-genome alignment coverage

Leopard orthology confidence [0 low, 1 high]

Lesser Egyptian jerboa Orthologues

Lesser Egyptian jerboa gene stable ID

Lesser Egyptian jerboa gene name

Lesser Egyptian jerboa protein or transcript stable ID

Lesser Egyptian jerboa chromosome/scaffold name

Lesser Egyptian jerboa chromosome/scaffold start (bp)

Lesser Egyptian jerboa chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Lesser Egyptian jerboa

Lesser Egyptian jerboa homology type

%id. target Lesser Egyptian jerboa gene identical to query gene

%id. query gene identical to target Lesser Egyptian jerboa gene

Lesser Egyptian jerboa Gene-order conservation score

Lesser Egyptian jerboa Whole-genome alignment coverage

Lesser Egyptian jerboa orthology confidence [0 low, 1 high]

Lesser hedgehog tenrec Orthologues

Lesser hedgehog tenrec gene stable ID

Lesser hedgehog tenrec gene name

Lesser hedgehog tenrec protein or transcript stable ID

Lesser hedgehog tenrec chromosome/scaffold name

Lesser hedgehog tenrec chromosome/scaffold start (bp)

Lesser hedgehog tenrec chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Lesser hedgehog tenrec

Lesser hedgehog tenrec homology type

%id. target Lesser hedgehog tenrec gene identical to query gene

%id. query gene identical to target Lesser hedgehog tenrec gene

Lesser hedgehog tenrec Gene-order conservation score

Lesser hedgehog tenrec Whole-genome alignment coverage

Lesser hedgehog tenrec orthology confidence [0 low, 1 high]

Lion Orthologues

Lion gene stable ID

Lion gene name

Lion protein or transcript stable ID

Lion chromosome/scaffold name

Lion chromosome/scaffold start (bp)

Lion chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Lion

Lion homology type

%id. target Lion gene identical to query gene

%id. query gene identical to target Lion gene

Lion Gene-order conservation score

Lion Whole-genome alignment coverage

Lion orthology confidence [0 low, 1 high]

Long-tailed chinchilla Orthologues

Long-tailed chinchilla gene stable ID

Long-tailed chinchilla gene name

Long-tailed chinchilla protein or transcript stable ID

Long-tailed chinchilla chromosome/scaffold name

Long-tailed chinchilla chromosome/scaffold start (bp)

Long-tailed chinchilla chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Long-tailed chinchilla

Long-tailed chinchilla homology type

%id. target Long-tailed chinchilla gene identical to query gene

%id. query gene identical to target Long-tailed chinchilla gene

Long-tailed chinchilla Gene-order conservation score

Long-tailed chinchilla Whole-genome alignment coverage

Long-tailed chinchilla orthology confidence [0 low, 1 high]

Lumpfish Orthologues

Lumpfish gene stable ID

Lumpfish gene name

Lumpfish protein or transcript stable ID

Lumpfish chromosome/scaffold name

Lumpfish chromosome/scaffold start (bp)

Lumpfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Lumpfish

Lumpfish homology type

%id. target Lumpfish gene identical to query gene

%id. query gene identical to target Lumpfish gene

Lumpfish Gene-order conservation score

Lumpfish Whole-genome alignment coverage

Lumpfish orthology confidence [0 low, 1 high]

Lyretail cichlid Orthologues

Lyretail cichlid gene stable ID

Lyretail cichlid gene name

Lyretail cichlid protein or transcript stable ID

Lyretail cichlid chromosome/scaffold name

Lyretail cichlid chromosome/scaffold start (bp)

Lyretail cichlid chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Lyretail cichlid

Lyretail cichlid homology type

%id. target Lyretail cichlid gene identical to query gene

%id. query gene identical to target Lyretail cichlid gene

Lyretail cichlid Gene-order conservation score

Lyretail cichlid Whole-genome alignment coverage

Lyretail cichlid orthology confidence [0 low, 1 high]

Ma's night monkey Orthologues

Ma's night monkey gene stable ID

Ma's night monkey gene name

Ma's night monkey protein or transcript stable ID

Ma's night monkey chromosome/scaffold name

Ma's night monkey chromosome/scaffold start (bp)

Ma's night monkey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Ma's night monkey

Ma's night monkey homology type

%id. target Ma's night monkey gene identical to query gene

%id. query gene identical to target Ma's night monkey gene

Ma's night monkey Gene-order conservation score

Ma's night monkey Whole-genome alignment coverage

Ma's night monkey orthology confidence [0 low, 1 high]

Macaque Orthologues

Macaque gene stable ID

Macaque gene name

Macaque protein or transcript stable ID

Macaque chromosome/scaffold name

Macaque chromosome/scaffold start (bp)

Macaque chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Macaque

Macaque homology type

%id. target Macaque gene identical to query gene

%id. query gene identical to target Macaque gene

Macaque Gene-order conservation score

Macaque Whole-genome alignment coverage

Macaque orthology confidence [0 low, 1 high]

Mainland tiger snake Orthologues

Mainland tiger snake gene stable ID

Mainland tiger snake gene name

Mainland tiger snake protein or transcript stable ID

Mainland tiger snake chromosome/scaffold name

Mainland tiger snake chromosome/scaffold start (bp)

Mainland tiger snake chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Mainland tiger snake

Mainland tiger snake homology type

%id. target Mainland tiger snake gene identical to query gene

%id. query gene identical to target Mainland tiger snake gene

Mainland tiger snake Gene-order conservation score

Mainland tiger snake Whole-genome alignment coverage

Mainland tiger snake orthology confidence [0 low, 1 high]

Makobe Island cichlid Orthologues

Makobe Island cichlid gene stable ID

Makobe Island cichlid gene name

Makobe Island cichlid protein or transcript stable ID

Makobe Island cichlid chromosome/scaffold name

Makobe Island cichlid chromosome/scaffold start (bp)

Makobe Island cichlid chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Makobe Island cichlid

Makobe Island cichlid homology type

%id. target Makobe Island cichlid gene identical to query gene

%id. query gene identical to target Makobe Island cichlid gene

Makobe Island cichlid Gene-order conservation score

Makobe Island cichlid Whole-genome alignment coverage

Makobe Island cichlid orthology confidence [0 low, 1 high]

Mangrove rivulus Orthologues

Mangrove rivulus gene stable ID

Mangrove rivulus gene name

Mangrove rivulus protein or transcript stable ID

Mangrove rivulus chromosome/scaffold name

Mangrove rivulus chromosome/scaffold start (bp)

Mangrove rivulus chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Mangrove rivulus

Mangrove rivulus homology type

%id. target Mangrove rivulus gene identical to query gene

%id. query gene identical to target Mangrove rivulus gene

Mangrove rivulus Gene-order conservation score

Mangrove rivulus Whole-genome alignment coverage

Mangrove rivulus orthology confidence [0 low, 1 high]

Marmoset Orthologues

Marmoset gene stable ID

Marmoset gene name

Marmoset protein or transcript stable ID

Marmoset chromosome/scaffold name

Marmoset chromosome/scaffold start (bp)

Marmoset chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Marmoset

Marmoset homology type

%id. target Marmoset gene identical to query gene

%id. query gene identical to target Marmoset gene

Marmoset Gene-order conservation score

Marmoset Whole-genome alignment coverage

Marmoset orthology confidence [0 low, 1 high]

Medium ground-finch Orthologues

Medium ground-finch gene stable ID

Medium ground-finch gene name

Medium ground-finch protein or transcript stable ID

Medium ground-finch chromosome/scaffold name

Medium ground-finch chromosome/scaffold start (bp)

Medium ground-finch chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Medium ground-finch

Medium ground-finch homology type

%id. target Medium ground-finch gene identical to query gene

%id. query gene identical to target Medium ground-finch gene

Medium ground-finch Gene-order conservation score

Medium ground-finch Whole-genome alignment coverage

Medium ground-finch orthology confidence [0 low, 1 high]

Megabat Orthologues

Megabat gene stable ID

Megabat gene name

Megabat protein or transcript stable ID

Megabat chromosome/scaffold name

Megabat chromosome/scaffold start (bp)

Megabat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Megabat

Megabat homology type

%id. target Megabat gene identical to query gene

%id. query gene identical to target Megabat gene

Megabat Gene-order conservation score

Megabat Whole-genome alignment coverage

Megabat orthology confidence [0 low, 1 high]

Mexican tetra Orthologues

Mexican tetra gene stable ID

Mexican tetra gene name

Mexican tetra protein or transcript stable ID

Mexican tetra chromosome/scaffold name

Mexican tetra chromosome/scaffold start (bp)

Mexican tetra chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Mexican tetra

Mexican tetra homology type

%id. target Mexican tetra gene identical to query gene

%id. query gene identical to target Mexican tetra gene

Mexican tetra Gene-order conservation score

Mexican tetra Whole-genome alignment coverage

Mexican tetra orthology confidence [0 low, 1 high]

Microbat Orthologues

Microbat gene stable ID

Microbat gene name

Microbat protein or transcript stable ID

Microbat chromosome/scaffold name

Microbat chromosome/scaffold start (bp)

Microbat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Microbat

Microbat homology type

%id. target Microbat gene identical to query gene

%id. query gene identical to target Microbat gene

Microbat Gene-order conservation score

Microbat Whole-genome alignment coverage

Microbat orthology confidence [0 low, 1 high]

Midas cichlid Orthologues

Midas cichlid gene stable ID

Midas cichlid gene name

Midas cichlid protein or transcript stable ID

Midas cichlid chromosome/scaffold name

Midas cichlid chromosome/scaffold start (bp)

Midas cichlid chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Midas cichlid

Midas cichlid homology type

%id. target Midas cichlid gene identical to query gene

%id. query gene identical to target Midas cichlid gene

Midas cichlid Gene-order conservation score

Midas cichlid Whole-genome alignment coverage

Midas cichlid orthology confidence [0 low, 1 high]

Mouse Orthologues

Mouse gene stable ID

Mouse gene name

Mouse protein or transcript stable ID

Mouse chromosome/scaffold name

Mouse chromosome/scaffold start (bp)

Mouse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Mouse

Mouse homology type

%id. target Mouse gene identical to query gene

%id. query gene identical to target Mouse gene

Mouse Gene-order conservation score

Mouse Whole-genome alignment coverage

Mouse orthology confidence [0 low, 1 high]

Mouse Lemur Orthologues

Mouse Lemur gene stable ID

Mouse Lemur gene name

Mouse Lemur protein or transcript stable ID

Mouse Lemur chromosome/scaffold name

Mouse Lemur chromosome/scaffold start (bp)

Mouse Lemur chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Mouse Lemur

Mouse Lemur homology type

%id. target Mouse Lemur gene identical to query gene

%id. query gene identical to target Mouse Lemur gene

Mouse Lemur Gene-order conservation score

Mouse Lemur Whole-genome alignment coverage

Mouse Lemur orthology confidence [0 low, 1 high]

Mummichog Orthologues

Mummichog gene stable ID

Mummichog gene name

Mummichog protein or transcript stable ID

Mummichog chromosome/scaffold name

Mummichog chromosome/scaffold start (bp)

Mummichog chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Mummichog

Mummichog homology type

%id. target Mummichog gene identical to query gene

%id. query gene identical to target Mummichog gene

Mummichog Gene-order conservation score

Mummichog Whole-genome alignment coverage

Mummichog orthology confidence [0 low, 1 high]

Naked mole-rat female Orthologues

Naked mole-rat female gene stable ID

Naked mole-rat female gene name

Naked mole-rat female protein or transcript stable ID

Naked mole-rat female chromosome/scaffold name

Naked mole-rat female chromosome/scaffold start (bp)

Naked mole-rat female chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Naked mole-rat female

Naked mole-rat female homology type

%id. target Naked mole-rat female gene identical to query gene

%id. query gene identical to target Naked mole-rat female gene

Naked mole-rat female Gene-order conservation score

Naked mole-rat female Whole-genome alignment coverage

Naked mole-rat female orthology confidence [0 low, 1 high]

Narwhal Orthologues

Narwhal gene stable ID

Narwhal gene name

Narwhal protein or transcript stable ID

Narwhal chromosome/scaffold name

Narwhal chromosome/scaffold start (bp)

Narwhal chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Narwhal

Narwhal homology type

%id. target Narwhal gene identical to query gene

%id. query gene identical to target Narwhal gene

Narwhal Gene-order conservation score

Narwhal Whole-genome alignment coverage

Narwhal orthology confidence [0 low, 1 high]

Nile tilapia Orthologues

Nile tilapia gene stable ID

Nile tilapia gene name

Nile tilapia protein or transcript stable ID

Nile tilapia chromosome/scaffold name

Nile tilapia chromosome/scaffold start (bp)

Nile tilapia chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Nile tilapia

Nile tilapia homology type

%id. target Nile tilapia gene identical to query gene

%id. query gene identical to target Nile tilapia gene

Nile tilapia Gene-order conservation score

Nile tilapia Whole-genome alignment coverage

Nile tilapia orthology confidence [0 low, 1 high]

Northern American deer mouse Orthologues

Northern American deer mouse gene stable ID

Northern American deer mouse gene name

Northern American deer mouse protein or transcript stable ID

Northern American deer mouse chromosome/scaffold name

Northern American deer mouse chromosome/scaffold start (bp)

Northern American deer mouse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Northern American deer mouse

Northern American deer mouse homology type

%id. target Northern American deer mouse gene identical to query gene

%id. query gene identical to target Northern American deer mouse gene

Northern American deer mouse Gene-order conservation score

Northern American deer mouse Whole-genome alignment coverage

Northern American deer mouse orthology confidence [0 low, 1 high]

Northern pike Orthologues

Northern pike gene stable ID

Northern pike gene name

Northern pike protein or transcript stable ID

Northern pike chromosome/scaffold name

Northern pike chromosome/scaffold start (bp)

Northern pike chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Northern pike

Northern pike homology type

%id. target Northern pike gene identical to query gene

%id. query gene identical to target Northern pike gene

Northern pike Gene-order conservation score

Northern pike Whole-genome alignment coverage

Northern pike orthology confidence [0 low, 1 high]

Olive baboon Orthologues

Olive baboon gene stable ID

Olive baboon gene name

Olive baboon protein or transcript stable ID

Olive baboon chromosome/scaffold name

Olive baboon chromosome/scaffold start (bp)

Olive baboon chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Olive baboon

Olive baboon homology type

%id. target Olive baboon gene identical to query gene

%id. query gene identical to target Olive baboon gene

Olive baboon Gene-order conservation score

Olive baboon Whole-genome alignment coverage

Olive baboon orthology confidence [0 low, 1 high]

Opossum Orthologues

Opossum gene stable ID

Opossum gene name

Opossum protein or transcript stable ID

Opossum chromosome/scaffold name

Opossum chromosome/scaffold start (bp)

Opossum chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Opossum

Opossum homology type

%id. target Opossum gene identical to query gene

%id. query gene identical to target Opossum gene

Opossum Gene-order conservation score

Opossum Whole-genome alignment coverage

Opossum orthology confidence [0 low, 1 high]

Orange clownfish Orthologues

Orange clownfish gene stable ID

Orange clownfish gene name

Orange clownfish protein or transcript stable ID

Orange clownfish chromosome/scaffold name

Orange clownfish chromosome/scaffold start (bp)

Orange clownfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Orange clownfish

Orange clownfish homology type

%id. target Orange clownfish gene identical to query gene

%id. query gene identical to target Orange clownfish gene

Orange clownfish Gene-order conservation score

Orange clownfish Whole-genome alignment coverage

Orange clownfish orthology confidence [0 low, 1 high]

Orangutan Orthologues

Orangutan gene stable ID

Orangutan gene name

Orangutan protein or transcript stable ID

Orangutan chromosome/scaffold name

Orangutan chromosome/scaffold start (bp)

Orangutan chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Orangutan

Orangutan homology type

%id. target Orangutan gene identical to query gene

%id. query gene identical to target Orangutan gene

Orangutan Gene-order conservation score

Orangutan Whole-genome alignment coverage

Orangutan orthology confidence [0 low, 1 high]

ORTHOLOGUES [P-T]:

Painted turtle Orthologues

Painted turtle gene stable ID

Painted turtle gene name

Painted turtle protein or transcript stable ID

Painted turtle chromosome/scaffold name

Painted turtle chromosome/scaffold start (bp)

Painted turtle chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Painted turtle

Painted turtle homology type

%id. target Painted turtle gene identical to query gene

%id. query gene identical to target Painted turtle gene

Painted turtle Gene-order conservation score

Painted turtle Whole-genome alignment coverage

Painted turtle orthology confidence [0 low, 1 high]

Paramormyrops kingsleyae Orthologues

Paramormyrops kingsleyae gene stable ID

Paramormyrops kingsleyae gene name

Paramormyrops kingsleyae protein or transcript stable ID

Paramormyrops kingsleyae chromosome/scaffold name

Paramormyrops kingsleyae chromosome/scaffold start (bp)

Paramormyrops kingsleyae chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Paramormyrops kingsleyae

Paramormyrops kingsleyae homology type

%id. target Paramormyrops kingsleyae gene identical to query gene

%id. query gene identical to target Paramormyrops kingsleyae gene

Paramormyrops kingsleyae Gene-order conservation score

Paramormyrops kingsleyae Whole-genome alignment coverage

Paramormyrops kingsleyae orthology confidence [0 low, 1 high]

Pig Orthologues

Pig gene stable ID

Pig gene name

Pig protein or transcript stable ID

Pig chromosome/scaffold name

Pig chromosome/scaffold start (bp)

Pig chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Pig

Pig homology type

%id. target Pig gene identical to query gene

%id. query gene identical to target Pig gene

Pig Gene-order conservation score

Pig Whole-genome alignment coverage

Pig orthology confidence [0 low, 1 high]

Pig-tailed macaque Orthologues

Pig-tailed macaque gene stable ID

Pig-tailed macaque gene name

Pig-tailed macaque protein or transcript stable ID

Pig-tailed macaque chromosome/scaffold name

Pig-tailed macaque chromosome/scaffold start (bp)

Pig-tailed macaque chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Pig-tailed macaque

Pig-tailed macaque homology type

%id. target Pig-tailed macaque gene identical to query gene

%id. query gene identical to target Pig-tailed macaque gene

Pig-tailed macaque Gene-order conservation score

Pig-tailed macaque Whole-genome alignment coverage

Pig-tailed macaque orthology confidence [0 low, 1 high]

Pika Orthologues

Pika gene stable ID

Pika gene name

Pika protein or transcript stable ID

Pika chromosome/scaffold name

Pika chromosome/scaffold start (bp)

Pika chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Pika

Pika homology type

%id. target Pika gene identical to query gene

%id. query gene identical to target Pika gene

Pika Gene-order conservation score

Pika Whole-genome alignment coverage

Pika orthology confidence [0 low, 1 high]

Pike-perch Orthologues

Pike-perch gene stable ID

Pike-perch gene name

Pike-perch protein or transcript stable ID

Pike-perch chromosome/scaffold name

Pike-perch chromosome/scaffold start (bp)

Pike-perch chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Pike-perch

Pike-perch homology type

%id. target Pike-perch gene identical to query gene

%id. query gene identical to target Pike-perch gene

Pike-perch Gene-order conservation score

Pike-perch Whole-genome alignment coverage

Pike-perch orthology confidence [0 low, 1 high]

Pinecone soldierfish Orthologues

Pinecone soldierfish gene stable ID

Pinecone soldierfish gene name

Pinecone soldierfish protein or transcript stable ID

Pinecone soldierfish chromosome/scaffold name

Pinecone soldierfish chromosome/scaffold start (bp)

Pinecone soldierfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Pinecone soldierfish

Pinecone soldierfish homology type

%id. target Pinecone soldierfish gene identical to query gene

%id. query gene identical to target Pinecone soldierfish gene

Pinecone soldierfish Gene-order conservation score

Pinecone soldierfish Whole-genome alignment coverage

Pinecone soldierfish orthology confidence [0 low, 1 high]

Pink-footed goose Orthologues

Pink-footed goose gene stable ID

Pink-footed goose gene name

Pink-footed goose protein or transcript stable ID

Pink-footed goose chromosome/scaffold name

Pink-footed goose chromosome/scaffold start (bp)

Pink-footed goose chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Pink-footed goose

Pink-footed goose homology type

%id. target Pink-footed goose gene identical to query gene

%id. query gene identical to target Pink-footed goose gene

Pink-footed goose Gene-order conservation score

Pink-footed goose Whole-genome alignment coverage

Pink-footed goose orthology confidence [0 low, 1 high]

Platyfish Orthologues

Platyfish gene stable ID

Platyfish gene name

Platyfish protein or transcript stable ID

Platyfish chromosome/scaffold name

Platyfish chromosome/scaffold start (bp)

Platyfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Platyfish

Platyfish homology type

%id. target Platyfish gene identical to query gene

%id. query gene identical to target Platyfish gene

Platyfish Gene-order conservation score

Platyfish Whole-genome alignment coverage

Platyfish orthology confidence [0 low, 1 high]

Platypus Orthologues

Platypus gene stable ID

Platypus gene name

Platypus protein or transcript stable ID

Platypus chromosome/scaffold name

Platypus chromosome/scaffold start (bp)

Platypus chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Platypus

Platypus homology type

%id. target Platypus gene identical to query gene

%id. query gene identical to target Platypus gene

Platypus Gene-order conservation score

Platypus Whole-genome alignment coverage

Platypus orthology confidence [0 low, 1 high]

Polar bear Orthologues

Polar bear gene stable ID

Polar bear gene name

Polar bear protein or transcript stable ID

Polar bear chromosome/scaffold name

Polar bear chromosome/scaffold start (bp)

Polar bear chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Polar bear

Polar bear homology type

%id. target Polar bear gene identical to query gene

%id. query gene identical to target Polar bear gene

Polar bear Gene-order conservation score

Polar bear Whole-genome alignment coverage

Polar bear orthology confidence [0 low, 1 high]

Prairie vole Orthologues

Prairie vole gene stable ID

Prairie vole gene name

Prairie vole protein or transcript stable ID

Prairie vole chromosome/scaffold name

Prairie vole chromosome/scaffold start (bp)

Prairie vole chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Prairie vole

Prairie vole homology type

%id. target Prairie vole gene identical to query gene

%id. query gene identical to target Prairie vole gene

Prairie vole Gene-order conservation score

Prairie vole Whole-genome alignment coverage

Prairie vole orthology confidence [0 low, 1 high]

Rabbit Orthologues

Rabbit gene stable ID

Rabbit gene name

Rabbit protein or transcript stable ID

Rabbit chromosome/scaffold name

Rabbit chromosome/scaffold start (bp)

Rabbit chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Rabbit

Rabbit homology type

%id. target Rabbit gene identical to query gene

%id. query gene identical to target Rabbit gene

Rabbit Gene-order conservation score

Rabbit Whole-genome alignment coverage

Rabbit orthology confidence [0 low, 1 high]

Rainbow trout Orthologues

Rainbow trout gene stable ID

Rainbow trout gene name

Rainbow trout protein or transcript stable ID

Rainbow trout chromosome/scaffold name

Rainbow trout chromosome/scaffold start (bp)

Rainbow trout chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Rainbow trout

Rainbow trout homology type

%id. target Rainbow trout gene identical to query gene

%id. query gene identical to target Rainbow trout gene

Rainbow trout Gene-order conservation score

Rainbow trout Whole-genome alignment coverage

Rainbow trout orthology confidence [0 low, 1 high]

Rat Orthologues

Rat gene stable ID

Rat gene name

Rat protein or transcript stable ID

Rat chromosome/scaffold name

Rat chromosome/scaffold start (bp)

Rat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Rat

Rat homology type

%id. target Rat gene identical to query gene

%id. query gene identical to target Rat gene

Rat Gene-order conservation score

Rat Whole-genome alignment coverage

Rat orthology confidence [0 low, 1 high]

Red fox Orthologues

Red fox gene stable ID

Red fox gene name

Red fox protein or transcript stable ID

Red fox chromosome/scaffold name

Red fox chromosome/scaffold start (bp)

Red fox chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Red fox

Red fox homology type

%id. target Red fox gene identical to query gene

%id. query gene identical to target Red fox gene

Red fox Gene-order conservation score

Red fox Whole-genome alignment coverage

Red fox orthology confidence [0 low, 1 high]

Red-bellied piranha Orthologues

Red-bellied piranha gene stable ID

Red-bellied piranha gene name

Red-bellied piranha protein or transcript stable ID

Red-bellied piranha chromosome/scaffold name

Red-bellied piranha chromosome/scaffold start (bp)

Red-bellied piranha chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Red-bellied piranha

Red-bellied piranha homology type

%id. target Red-bellied piranha gene identical to query gene

%id. query gene identical to target Red-bellied piranha gene

Red-bellied piranha Gene-order conservation score

Red-bellied piranha Whole-genome alignment coverage

Red-bellied piranha orthology confidence [0 low, 1 high]

Reedfish Orthologues

Reedfish gene stable ID

Reedfish gene name

Reedfish protein or transcript stable ID

Reedfish chromosome/scaffold name

Reedfish chromosome/scaffold start (bp)

Reedfish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Reedfish

Reedfish homology type

%id. target Reedfish gene identical to query gene

%id. query gene identical to target Reedfish gene

Reedfish Gene-order conservation score

Reedfish Whole-genome alignment coverage

Reedfish orthology confidence [0 low, 1 high]

Ryukyu mouse Orthologues

Ryukyu mouse gene stable ID

Ryukyu mouse gene name

Ryukyu mouse protein or transcript stable ID

Ryukyu mouse chromosome/scaffold name

Ryukyu mouse chromosome/scaffold start (bp)

Ryukyu mouse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Ryukyu mouse

Ryukyu mouse homology type

%id. target Ryukyu mouse gene identical to query gene

%id. query gene identical to target Ryukyu mouse gene

Ryukyu mouse Gene-order conservation score

Ryukyu mouse Whole-genome alignment coverage

Ryukyu mouse orthology confidence [0 low, 1 high]

Saccharomyces cerevisiae Orthologues

Saccharomyces cerevisiae gene stable ID

Saccharomyces cerevisiae gene name

Saccharomyces cerevisiae protein or transcript stable ID

Saccharomyces cerevisiae chromosome/scaffold name

Saccharomyces cerevisiae chromosome/scaffold start (bp)

Saccharomyces cerevisiae chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Saccharomyces cerevisiae

Saccharomyces cerevisiae homology type

%id. target Saccharomyces cerevisiae gene identical to query gene

%id. query gene identical to target Saccharomyces cerevisiae gene

Saccharomyces cerevisiae orthology confidence [0 low, 1 high]

Sailfin molly Orthologues

Sailfin molly gene stable ID

Sailfin molly gene name

Sailfin molly protein or transcript stable ID

Sailfin molly chromosome/scaffold name

Sailfin molly chromosome/scaffold start (bp)

Sailfin molly chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Sailfin molly

Sailfin molly homology type

%id. target Sailfin molly gene identical to query gene

%id. query gene identical to target Sailfin molly gene

Sailfin molly Gene-order conservation score

Sailfin molly Whole-genome alignment coverage

Sailfin molly orthology confidence [0 low, 1 high]

Sheep Orthologues

Sheep gene stable ID

Sheep gene name

Sheep protein or transcript stable ID

Sheep chromosome/scaffold name

Sheep chromosome/scaffold start (bp)

Sheep chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Sheep

Sheep homology type

%id. target Sheep gene identical to query gene

%id. query gene identical to target Sheep gene

Sheep Gene-order conservation score

Sheep Whole-genome alignment coverage

Sheep orthology confidence [0 low, 1 high]

Sheepshead minnow Orthologues

Sheepshead minnow gene stable ID

Sheepshead minnow gene name

Sheepshead minnow protein or transcript stable ID

Sheepshead minnow chromosome/scaffold name

Sheepshead minnow chromosome/scaffold start (bp)

Sheepshead minnow chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Sheepshead minnow

Sheepshead minnow homology type

%id. target Sheepshead minnow gene identical to query gene

%id. query gene identical to target Sheepshead minnow gene

Sheepshead minnow Gene-order conservation score

Sheepshead minnow Whole-genome alignment coverage

Sheepshead minnow orthology confidence [0 low, 1 high]

Shrew Orthologues

Shrew gene stable ID

Shrew gene name

Shrew protein or transcript stable ID

Shrew chromosome/scaffold name

Shrew chromosome/scaffold start (bp)

Shrew chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Shrew

Shrew homology type

%id. target Shrew gene identical to query gene

%id. query gene identical to target Shrew gene

Shrew Gene-order conservation score

Shrew Whole-genome alignment coverage

Shrew orthology confidence [0 low, 1 high]

Shrew mouse Orthologues

Shrew mouse gene stable ID

Shrew mouse gene name

Shrew mouse protein or transcript stable ID

Shrew mouse chromosome/scaffold name

Shrew mouse chromosome/scaffold start (bp)

Shrew mouse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Shrew mouse

Shrew mouse homology type

%id. target Shrew mouse gene identical to query gene

%id. query gene identical to target Shrew mouse gene

Shrew mouse Gene-order conservation score

Shrew mouse Whole-genome alignment coverage

Shrew mouse orthology confidence [0 low, 1 high]

Siamese fighting fish Orthologues

Siamese fighting fish gene stable ID

Siamese fighting fish gene name

Siamese fighting fish protein or transcript stable ID

Siamese fighting fish chromosome/scaffold name

Siamese fighting fish chromosome/scaffold start (bp)

Siamese fighting fish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Siamese fighting fish

Siamese fighting fish homology type

%id. target Siamese fighting fish gene identical to query gene

%id. query gene identical to target Siamese fighting fish gene

Siamese fighting fish Gene-order conservation score

Siamese fighting fish Whole-genome alignment coverage

Siamese fighting fish orthology confidence [0 low, 1 high]

Siberian musk deer Orthologues

Siberian musk deer gene stable ID

Siberian musk deer gene name

Siberian musk deer protein or transcript stable ID

Siberian musk deer chromosome/scaffold name

Siberian musk deer chromosome/scaffold start (bp)

Siberian musk deer chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Siberian musk deer

Siberian musk deer homology type

%id. target Siberian musk deer gene identical to query gene

%id. query gene identical to target Siberian musk deer gene

Siberian musk deer Gene-order conservation score

Siberian musk deer Whole-genome alignment coverage

Siberian musk deer orthology confidence [0 low, 1 high]

Sloth Orthologues

Sloth gene stable ID

Sloth gene name

Sloth protein or transcript stable ID

Sloth chromosome/scaffold name

Sloth chromosome/scaffold start (bp)

Sloth chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Sloth

Sloth homology type

%id. target Sloth gene identical to query gene

%id. query gene identical to target Sloth gene

Sloth Gene-order conservation score

Sloth Whole-genome alignment coverage

Sloth orthology confidence [0 low, 1 high]

Sooty mangabey Orthologues

Sooty mangabey gene stable ID

Sooty mangabey gene name

Sooty mangabey protein or transcript stable ID

Sooty mangabey chromosome/scaffold name

Sooty mangabey chromosome/scaffold start (bp)

Sooty mangabey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Sooty mangabey

Sooty mangabey homology type

%id. target Sooty mangabey gene identical to query gene

%id. query gene identical to target Sooty mangabey gene

Sooty mangabey Gene-order conservation score

Sooty mangabey Whole-genome alignment coverage

Sooty mangabey orthology confidence [0 low, 1 high]

Sperm whale Orthologues

Sperm whale gene stable ID

Sperm whale gene name

Sperm whale protein or transcript stable ID

Sperm whale chromosome/scaffold name

Sperm whale chromosome/scaffold start (bp)

Sperm whale chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Sperm whale

Sperm whale homology type

%id. target Sperm whale gene identical to query gene

%id. query gene identical to target Sperm whale gene

Sperm whale Gene-order conservation score

Sperm whale Whole-genome alignment coverage

Sperm whale orthology confidence [0 low, 1 high]

Spiny chromis Orthologues

Spiny chromis gene stable ID

Spiny chromis gene name

Spiny chromis protein or transcript stable ID

Spiny chromis chromosome/scaffold name

Spiny chromis chromosome/scaffold start (bp)

Spiny chromis chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Spiny chromis

Spiny chromis homology type

%id. target Spiny chromis gene identical to query gene

%id. query gene identical to target Spiny chromis gene

Spiny chromis Gene-order conservation score

Spiny chromis Whole-genome alignment coverage

Spiny chromis orthology confidence [0 low, 1 high]

Spotted gar Orthologues

Spotted gar gene stable ID

Spotted gar gene name

Spotted gar protein or transcript stable ID

Spotted gar chromosome/scaffold name

Spotted gar chromosome/scaffold start (bp)

Spotted gar chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Spotted gar

Spotted gar homology type

%id. target Spotted gar gene identical to query gene

%id. query gene identical to target Spotted gar gene

Spotted gar Gene-order conservation score

Spotted gar Whole-genome alignment coverage

Spotted gar orthology confidence [0 low, 1 high]

Squirrel Orthologues

Squirrel gene stable ID

Squirrel gene name

Squirrel protein or transcript stable ID

Squirrel chromosome/scaffold name

Squirrel chromosome/scaffold start (bp)

Squirrel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Squirrel

Squirrel homology type

%id. target Squirrel gene identical to query gene

%id. query gene identical to target Squirrel gene

Squirrel Gene-order conservation score

Squirrel Whole-genome alignment coverage

Squirrel orthology confidence [0 low, 1 high]

Steppe mouse Orthologues

Steppe mouse gene stable ID

Steppe mouse gene name

Steppe mouse protein or transcript stable ID

Steppe mouse chromosome/scaffold name

Steppe mouse chromosome/scaffold start (bp)

Steppe mouse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Steppe mouse

Steppe mouse homology type

%id. target Steppe mouse gene identical to query gene

%id. query gene identical to target Steppe mouse gene

Steppe mouse Gene-order conservation score

Steppe mouse Whole-genome alignment coverage

Steppe mouse orthology confidence [0 low, 1 high]

Stickleback Orthologues

Stickleback gene stable ID

Stickleback gene name

Stickleback protein or transcript stable ID

Stickleback chromosome/scaffold name

Stickleback chromosome/scaffold start (bp)

Stickleback chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Stickleback

Stickleback homology type

%id. target Stickleback gene identical to query gene

%id. query gene identical to target Stickleback gene

Stickleback Gene-order conservation score

Stickleback Whole-genome alignment coverage

Stickleback orthology confidence [0 low, 1 high]

Tarsier Orthologues

Tarsier gene stable ID

Tarsier gene name

Tarsier protein or transcript stable ID

Tarsier chromosome/scaffold name

Tarsier chromosome/scaffold start (bp)

Tarsier chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tarsier

Tarsier homology type

%id. target Tarsier gene identical to query gene

%id. query gene identical to target Tarsier gene

Tarsier Gene-order conservation score

Tarsier Whole-genome alignment coverage

Tarsier orthology confidence [0 low, 1 high]

Tasmanian devil Orthologues

Tasmanian devil gene stable ID

Tasmanian devil gene name

Tasmanian devil protein or transcript stable ID

Tasmanian devil chromosome/scaffold name

Tasmanian devil chromosome/scaffold start (bp)

Tasmanian devil chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tasmanian devil

Tasmanian devil homology type

%id. target Tasmanian devil gene identical to query gene

%id. query gene identical to target Tasmanian devil gene

Tasmanian devil Gene-order conservation score

Tasmanian devil orthology confidence [0 low, 1 high]

Tetraodon Orthologues

Tetraodon gene stable ID

Tetraodon gene name

Tetraodon protein or transcript stable ID

Tetraodon chromosome/scaffold name

Tetraodon chromosome/scaffold start (bp)

Tetraodon chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tetraodon

Tetraodon homology type

%id. target Tetraodon gene identical to query gene

%id. query gene identical to target Tetraodon gene

Tetraodon Gene-order conservation score

Tetraodon Whole-genome alignment coverage

Tetraodon orthology confidence [0 low, 1 high]

Three-toed box turtle Orthologues

Three-toed box turtle gene stable ID

Three-toed box turtle gene name

Three-toed box turtle protein or transcript stable ID

Three-toed box turtle chromosome/scaffold name

Three-toed box turtle chromosome/scaffold start (bp)

Three-toed box turtle chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Three-toed box turtle

Three-toed box turtle homology type

%id. target Three-toed box turtle gene identical to query gene

%id. query gene identical to target Three-toed box turtle gene

Three-toed box turtle Gene-order conservation score

Three-toed box turtle Whole-genome alignment coverage

Three-toed box turtle orthology confidence [0 low, 1 high]

Tiger Orthologues

Tiger gene stable ID

Tiger gene name

Tiger protein or transcript stable ID

Tiger chromosome/scaffold name

Tiger chromosome/scaffold start (bp)

Tiger chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tiger

Tiger homology type

%id. target Tiger gene identical to query gene

%id. query gene identical to target Tiger gene

Tiger Gene-order conservation score

Tiger Whole-genome alignment coverage

Tiger orthology confidence [0 low, 1 high]

Tiger tail seahorse Orthologues

Tiger tail seahorse gene stable ID

Tiger tail seahorse gene name

Tiger tail seahorse protein or transcript stable ID

Tiger tail seahorse chromosome/scaffold name

Tiger tail seahorse chromosome/scaffold start (bp)

Tiger tail seahorse chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tiger tail seahorse

Tiger tail seahorse homology type

%id. target Tiger tail seahorse gene identical to query gene

%id. query gene identical to target Tiger tail seahorse gene

Tiger tail seahorse Gene-order conservation score

Tiger tail seahorse Whole-genome alignment coverage

Tiger tail seahorse orthology confidence [0 low, 1 high]

Tongue sole Orthologues

Tongue sole gene stable ID

Tongue sole gene name

Tongue sole protein or transcript stable ID

Tongue sole chromosome/scaffold name

Tongue sole chromosome/scaffold start (bp)

Tongue sole chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tongue sole

Tongue sole homology type

%id. target Tongue sole gene identical to query gene

%id. query gene identical to target Tongue sole gene

Tongue sole Gene-order conservation score

Tongue sole Whole-genome alignment coverage

Tongue sole orthology confidence [0 low, 1 high]

Tree Shrew Orthologues

Tree Shrew gene stable ID

Tree Shrew gene name

Tree Shrew protein or transcript stable ID

Tree Shrew chromosome/scaffold name

Tree Shrew chromosome/scaffold start (bp)

Tree Shrew chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tree Shrew

Tree Shrew homology type

%id. target Tree Shrew gene identical to query gene

%id. query gene identical to target Tree Shrew gene

Tree Shrew Gene-order conservation score

Tree Shrew Whole-genome alignment coverage

Tree Shrew orthology confidence [0 low, 1 high]

Tropical clawed frog Orthologues

Tropical clawed frog gene stable ID

Tropical clawed frog gene name

Tropical clawed frog protein or transcript stable ID

Tropical clawed frog chromosome/scaffold name

Tropical clawed frog chromosome/scaffold start (bp)

Tropical clawed frog chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tropical clawed frog

Tropical clawed frog homology type

%id. target Tropical clawed frog gene identical to query gene

%id. query gene identical to target Tropical clawed frog gene

Tropical clawed frog Gene-order conservation score

Tropical clawed frog Whole-genome alignment coverage

Tropical clawed frog orthology confidence [0 low, 1 high]

Tuatara Orthologues

Tuatara gene stable ID

Tuatara gene name

Tuatara protein or transcript stable ID

Tuatara chromosome/scaffold name

Tuatara chromosome/scaffold start (bp)

Tuatara chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Tuatara

Tuatara homology type

%id. target Tuatara gene identical to query gene

%id. query gene identical to target Tuatara gene

Tuatara Gene-order conservation score

Tuatara Whole-genome alignment coverage

Tuatara orthology confidence [0 low, 1 high]

Turbot Orthologues

Turbot gene stable ID

Turbot gene name

Turbot protein or transcript stable ID

Turbot chromosome/scaffold name

Turbot chromosome/scaffold start (bp)

Turbot chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Turbot

Turbot homology type

%id. target Turbot gene identical to query gene

%id. query gene identical to target Turbot gene

Turbot Gene-order conservation score

Turbot orthology confidence [0 low, 1 high]

Turkey Orthologues

Turkey gene stable ID

Turkey gene name

Turkey protein or transcript stable ID

Turkey chromosome/scaffold name

Turkey chromosome/scaffold start (bp)

Turkey chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Turkey

Turkey homology type

%id. target Turkey gene identical to query gene

%id. query gene identical to target Turkey gene

Turkey Gene-order conservation score

Turkey orthology confidence [0 low, 1 high]

Turquoise killifish Orthologues

Turquoise killifish gene stable ID

Turquoise killifish gene name

Turquoise killifish protein or transcript stable ID

Turquoise killifish chromosome/scaffold name

Turquoise killifish chromosome/scaffold start (bp)

Turquoise killifish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Turquoise killifish

Turquoise killifish homology type

%id. target Turquoise killifish gene identical to query gene

%id. query gene identical to target Turquoise killifish gene

Turquoise killifish Gene-order conservation score

Turquoise killifish Whole-genome alignment coverage

Turquoise killifish orthology confidence [0 low, 1 high]

ORTHOLOGUES [U-Z]:

Upper Galilee mountains blind mole rat Orthologues

Upper Galilee mountains blind mole rat gene stable ID

Upper Galilee mountains blind mole rat gene name

Upper Galilee mountains blind mole rat protein or transcript stable ID

Upper Galilee mountains blind mole rat chromosome/scaffold name

Upper Galilee mountains blind mole rat chromosome/scaffold start (bp)

Upper Galilee mountains blind mole rat chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Upper Galilee mountains blind mole rat

Upper Galilee mountains blind mole rat homology type

%id. target Upper Galilee mountains blind mole rat gene identical to query gene

%id. query gene identical to target Upper Galilee mountains blind mole rat gene

Upper Galilee mountains blind mole rat Gene-order conservation score

Upper Galilee mountains blind mole rat Whole-genome alignment coverage

Upper Galilee mountains blind mole rat orthology confidence [0 low, 1 high]

Vaquita Orthologues

Vaquita gene stable ID

Vaquita gene name

Vaquita protein or transcript stable ID

Vaquita chromosome/scaffold name

Vaquita chromosome/scaffold start (bp)

Vaquita chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Vaquita

Vaquita homology type

%id. target Vaquita gene identical to query gene

%id. query gene identical to target Vaquita gene

Vaquita Gene-order conservation score

Vaquita Whole-genome alignment coverage

Vaquita orthology confidence [0 low, 1 high]

Vervet-AGM Orthologues

Vervet-AGM gene stable ID

Vervet-AGM gene name

Vervet-AGM protein or transcript stable ID

Vervet-AGM chromosome/scaffold name

Vervet-AGM chromosome/scaffold start (bp)

Vervet-AGM chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Vervet-AGM

Vervet-AGM homology type

%id. target Vervet-AGM gene identical to query gene

%id. query gene identical to target Vervet-AGM gene

Vervet-AGM Gene-order conservation score

Vervet-AGM Whole-genome alignment coverage

Vervet-AGM orthology confidence [0 low, 1 high]

Wallaby Orthologues

Wallaby gene stable ID

Wallaby gene name

Wallaby protein or transcript stable ID

Wallaby chromosome/scaffold name

Wallaby chromosome/scaffold start (bp)

Wallaby chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Wallaby

Wallaby homology type

%id. target Wallaby gene identical to query gene

%id. query gene identical to target Wallaby gene

Wallaby Gene-order conservation score

Wallaby Whole-genome alignment coverage

Wallaby orthology confidence [0 low, 1 high]

Wild yak Orthologues

Wild yak gene stable ID

Wild yak gene name

Wild yak protein or transcript stable ID

Wild yak chromosome/scaffold name

Wild yak chromosome/scaffold start (bp)

Wild yak chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Wild yak

Wild yak homology type

%id. target Wild yak gene identical to query gene

%id. query gene identical to target Wild yak gene

Wild yak Gene-order conservation score

Wild yak Whole-genome alignment coverage

Wild yak orthology confidence [0 low, 1 high]

Yarkand deer Orthologues

Yarkand deer gene stable ID

Yarkand deer gene name

Yarkand deer protein or transcript stable ID

Yarkand deer chromosome/scaffold name

Yarkand deer chromosome/scaffold start (bp)

Yarkand deer chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Yarkand deer

Yarkand deer homology type

%id. target Yarkand deer gene identical to query gene

%id. query gene identical to target Yarkand deer gene

Yarkand deer Gene-order conservation score

Yarkand deer Whole-genome alignment coverage

Yarkand deer orthology confidence [0 low, 1 high]

Yellowtail amberjack Orthologues

Yellowtail amberjack gene stable ID

Yellowtail amberjack gene name

Yellowtail amberjack protein or transcript stable ID

Yellowtail amberjack chromosome/scaffold name

Yellowtail amberjack chromosome/scaffold start (bp)

Yellowtail amberjack chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Yellowtail amberjack

Yellowtail amberjack homology type

%id. target Yellowtail amberjack gene identical to query gene

%id. query gene identical to target Yellowtail amberjack gene

Yellowtail amberjack Gene-order conservation score

Yellowtail amberjack Whole-genome alignment coverage

Yellowtail amberjack orthology confidence [0 low, 1 high]

Zebra finch Orthologues

Zebra finch gene stable ID

Zebra finch gene name

Zebra finch protein or transcript stable ID

Zebra finch chromosome/scaffold name

Zebra finch chromosome/scaffold start (bp)

Zebra finch chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Zebra finch

Zebra finch homology type

%id. target Zebra finch gene identical to query gene

%id. query gene identical to target Zebra finch gene

Zebra finch Gene-order conservation score

Zebra finch Whole-genome alignment coverage

Zebra finch orthology confidence [0 low, 1 high]

Zebra mbuna Orthologues

Zebra mbuna gene stable ID

Zebra mbuna gene name

Zebra mbuna protein or transcript stable ID

Zebra mbuna chromosome/scaffold name

Zebra mbuna chromosome/scaffold start (bp)

Zebra mbuna chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Zebra mbuna

Zebra mbuna homology type

%id. target Zebra mbuna gene identical to query gene

%id. query gene identical to target Zebra mbuna gene

Zebra mbuna Gene-order conservation score

Zebra mbuna Whole-genome alignment coverage

Zebra mbuna orthology confidence [0 low, 1 high]

Zebrafish Orthologues

Zebrafish gene stable ID

Zebrafish gene name

Zebrafish protein or transcript stable ID

Zebrafish chromosome/scaffold name

Zebrafish chromosome/scaffold start (bp)

Zebrafish chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Zebrafish

Zebrafish homology type

%id. target Zebrafish gene identical to query gene

%id. query gene identical to target Zebrafish gene

Zebrafish Gene-order conservation score

Zebrafish Whole-genome alignment coverage

Zebrafish orthology confidence [0 low, 1 high]

Zig-zag eel Orthologues

Zig-zag eel gene stable ID

Zig-zag eel gene name

Zig-zag eel protein or transcript stable ID

Zig-zag eel chromosome/scaffold name

Zig-zag eel chromosome/scaffold start (bp)

Zig-zag eel chromosome/scaffold end (bp)

Query protein or transcript ID

Last common ancestor with Zig-zag eel

Zig-zag eel homology type

%id. target Zig-zag eel gene identical to query gene

%id. query gene identical to target Zig-zag eel gene

Zig-zag eel Gene-order conservation score

Zig-zag eel orthology confidence [0 low, 1 high]

PARALOGUES:

Human Paralogues

Human paralogue gene stable ID

Human paralogue associated gene name

Human paralogue protein or transcript ID

Human paralogue chromosome/scaffold name

Human paralogue chromosome/scaffold start (bp)

Human paralogue chromosome/scaffold end (bp)

Paralogue query protein or transcript ID

Paralogue last common ancestor with Human

Human paralogue homology type

Paralogue %id. target Human gene identical to query gene

Paralogue %id. query gene identical to target Human gene

GENE:

Ensembl

Gene stable ID

Gene stable ID version

Version (gene)

Transcript stable ID

Transcript stable ID version

Version (transcript)

Protein stable ID

Protein stable ID version

Version (protein)

Chromosome/scaffold name

Gene start (bp)

Gene end (bp)

Strand

Karyotype band

Gene name

Source of gene name

Transcript count

Gene % GC content

Gene description

GERMLINE VARIANT INFORMATION:

Variant

Variant name

Variant source

Variant source description

Variant alleles

Variant supporting evidence

Mapweight

Minor allele

Minor allele frequency

Minor allele count

Clinical significance

Variants Location

Transcript location (bp)

Variant chromosome Strand

Protein location (aa)

chromosome/scaffold position start (bp)

Chromosome/scaffold position end (bp)

Gene Location and Effect

PolyPhen prediction

PolyPhen score

SIFT prediction

SIFT score

Distance to transcript

CDS start

CDS end

Protein allele

Variant consequence

Consequence specific allele

GENE:

Ensembl

Gene stable ID

Gene stable ID version

Version (gene)

Transcript stable ID

Transcript stable ID version

Version (transcript)

Protein stable ID

Protein stable ID version

Version (protein)

Chromosome/scaffold name

Gene start (bp)

Gene end (bp)

Strand

Karyotype band

Gene name

Source of gene name

Transcript count

Gene % GC content

Gene description

SOMATIC VARIANT INFORMATION:

Variant

Variant name

Variant source

Variant source description

Variant alleles

Variant supporting evidence

Mapweight

Variant location

Transcript location (bp)

Variant chromosome/scaffold strand

Protein location (aa)

Chromosome/scaffold position start (bp)

Chromosome/scaffold position end (bp)

Gene location and effect

Distance to transcript

CDS start

CDS end

Variant consequence

Consequence specific allele

SEQUENCES:

Sequences (max 1)

Unspliced (Transcript)

Unspliced (Gene)

Flank (Transcript)

Flank (Gene)

Flank-coding region (Transcript)

Flank-coding region (Gene)

5' UTR

3' UTR

Exon sequences

cDNA sequences

Coding sequence

Peptide

Upstream flank

Downstream flank

HEADER INFORMATION:

Gene Information

Gene stable ID

Gene stable ID version

Gene description

Gene name

Source of gene name

Chromosome/scaffold name

Gene start (bp)

Gene end (bp)

Gene type

Version (gene)

UniParc ID

UniProtKB/Swiss-Prot ID

UniProtKB/TrEMBL ID

Transcript Information

CDS start (within cDNA)

CDS end (within cDNA)

5' UTR start

5' UTR end

3' UTR start

3' UTR end

Transcript stable ID

Transcript stable ID version

Protein stable ID

Protein stable ID version

Transcript type

Version (transcript)

Version (protein)

Strand

Transcript start (bp)

Transcript end (bp)

Transcription start site (TSS)

Transcript length (including UTRs and CDS)

Exon Information

CDS Length

CDS start

CDS end

Exon stable ID

Exon region start (bp)

Exon region end (bp)

Strand

Exon rank in transcript

Start phase

End phase

cDNA coding start

cDNA coding end

Genomic coding start

Genomic coding end

Constitutive exon

Please restrict your query using criteria below
(If filter values are truncated in any lists, hover over the list item to see the full text)

REGION:

Chromosome/scaffold

Coordinates

Start

End

Karyotype band

Band Start

Band End

Marker

Marker Start

Marker End

ENCODE Pilot Regions

Multiple regions (Chr:Start:End:Strand) [Max 500 advised]

e.g. 1:100:10000:-1, 1:100000:200000:1

GENE:

Limit to genes (external references)...

Only
Excluded

Input external references ID list [Max 500 advised]

Limit to genes (microarray probes/probesets)...

Only
Excluded

Input microarray probes/probesets ID list [Max 500 advised]

Transcript count >=

Transcript count <=

Gene type

Transcript type

Source (gene)

Source (transcript)

Transcript Support Level (TSL)

Only
Excluded

GENCODE basic annotation

Only
Excluded

APPRIS annotation

Only
Excluded

Ensembl Canonical

Only
Excluded

MANE Select transcript

Only
Excluded

MANE Plus clinical

Only
Excluded

PHENOTYPE:

Phenotype

Phenotype source

GENE ONTOLOGY:

GO Term Accession (e.g. GO:0050789) [Max 500 advised]

GO Term Name [e.g. regulation of biological process]

GO Evidence code

MULTI SPECIES COMPARISONS:

Homologue filters

Only
Excluded

PROTEIN DOMAINS AND FAMILIES:

Limit to genes ...

Only
Excluded

Limit to genes with these family or domain IDs [Max 500 advised]

VARIANT:

Germline variant source

Somatic variant source

Variant supporting evidence

Only
Excluded

Variant Consequence

Export all results to	Unique results only
Email notification to

View	rows as Unique results only

1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
CHR_HG1_PATCH
CHR_HG26_PATCH
CHR_HG28_PATCH
CHR_HG30_PATCH
CHR_HG76_PATCH
CHR_HG107_PATCH
CHR_HG109_PATCH
CHR_HG126_PATCH
CHR_HG142_HG150_NOVEL_TEST
CHR_HG151_NOVEL_TEST
CHR_HG439_PATCH
CHR_HG545_PATCH
CHR_HG699_PATCH
CHR_HG705_PATCH
CHR_HG708_PATCH
CHR_HG721_PATCH
CHR_HG926_PATCH
CHR_HG986_PATCH
CHR_HG1277_PATCH
CHR_HG1298_PATCH
CHR_HG1309_PATCH
CHR_HG1311_PATCH
CHR_HG1320_PATCH
CHR_HG1342_HG2282_PATCH
CHR_HG1362_PATCH
CHR_HG1384_PATCH
CHR_HG1395_PATCH
CHR_HG1398_PATCH
CHR_HG1445_PATCH
CHR_HG1485_PATCH
CHR_HG1524_PATCH
CHR_HG1531_PATCH
CHR_HG1535_PATCH
CHR_HG1651_PATCH
CHR_HG1708_PATCH
CHR_HG1815_PATCH
CHR_HG1832_PATCH
CHR_HG2002_PATCH
CHR_HG2021_PATCH
CHR_HG2022_PATCH
CHR_HG2023_PATCH
CHR_HG2030_PATCH
CHR_HG2046_PATCH
CHR_HG2047_PATCH
CHR_HG2057_PATCH
CHR_HG2058_PATCH
CHR_HG2060_PATCH
CHR_HG2062_PATCH
CHR_HG2063_PATCH
CHR_HG2066_PATCH
CHR_HG2067_PATCH
CHR_HG2072_PATCH
CHR_HG2087_PATCH
CHR_HG2088_PATCH
CHR_HG2095_PATCH
CHR_HG2104_PATCH
CHR_HG2111_PATCH
CHR_HG2114_PATCH
CHR_HG2115_PATCH
CHR_HG2116_PATCH
CHR_HG2121_PATCH
CHR_HG2128_PATCH
CHR_HG2133_PATCH
CHR_HG2191_PATCH
CHR_HG2198_PATCH
CHR_HG2213_PATCH
CHR_HG2217_PATCH
CHR_HG2232_PATCH
CHR_HG2233_PATCH
CHR_HG2235_PATCH
CHR_HG2236_PATCH
CHR_HG2239_PATCH
CHR_HG2246_HG2248_HG2276_PATCH
CHR_HG2247_PATCH
CHR_HG2249_PATCH
CHR_HG2263_PATCH
CHR_HG2266_PATCH
CHR_HG2285_HG106_HG2252_PATCH
CHR_HG2288_HG2289_PATCH
CHR_HG2290_PATCH
CHR_HG2291_PATCH
CHR_HG2334_PATCH
CHR_HG2365_PATCH
CHR_HG2412_PATCH
CHR_HG2419_PATCH
CHR_HG2442_PATCH
CHR_HG2471_PATCH
CHR_HG2499_PATCH
CHR_HG2509_PATCH
CHR_HG2510_PATCH
CHR_HG2511_PATCH
CHR_HG2512_PATCH
CHR_HG2513_PATCH
CHR_HG2525_PATCH
CHR_HSCHRX_1_CTG3
CHR_HSCHRX_2_CTG3
CHR_HSCHRX_2_CTG12
CHR_HSCHR1_ALT2_1_CTG32_1
CHR_HSCHR1_1_CTG3
CHR_HSCHR1_1_CTG11
CHR_HSCHR1_1_CTG31
CHR_HSCHR1_1_CTG32_1
CHR_HSCHR1_2_CTG3
CHR_HSCHR1_2_CTG31
CHR_HSCHR1_2_CTG32_1
CHR_HSCHR1_3_CTG3
CHR_HSCHR1_3_CTG31
CHR_HSCHR1_3_CTG32_1
CHR_HSCHR1_4_CTG3
CHR_HSCHR1_4_CTG31
CHR_HSCHR1_5_CTG3
CHR_HSCHR1_5_CTG32_1
CHR_HSCHR1_6_CTG3
CHR_HSCHR1_8_CTG3
CHR_HSCHR1_9_CTG3
CHR_HSCHR2_1_CTG1
CHR_HSCHR2_1_CTG5
CHR_HSCHR2_1_CTG7
CHR_HSCHR2_1_CTG7_2
CHR_HSCHR2_1_CTG15
CHR_HSCHR2_2_CTG1
CHR_HSCHR2_2_CTG7
CHR_HSCHR2_2_CTG7_2
CHR_HSCHR2_2_CTG15
CHR_HSCHR2_3_CTG1
CHR_HSCHR2_3_CTG7_2
CHR_HSCHR2_3_CTG15
CHR_HSCHR2_4_CTG1
CHR_HSCHR2_6_CTG7_2
CHR_HSCHR2_7_CTG7_2
CHR_HSCHR2_8_CTG7_2
CHR_HSCHR3_1_CTG1
CHR_HSCHR3_1_CTG2_1
CHR_HSCHR3_1_CTG3
CHR_HSCHR3_2_CTG2_1
CHR_HSCHR3_2_CTG3
CHR_HSCHR3_3_CTG1
CHR_HSCHR3_3_CTG3
CHR_HSCHR3_4_CTG1
CHR_HSCHR3_4_CTG2_1
CHR_HSCHR3_4_CTG3
CHR_HSCHR3_5_CTG1
CHR_HSCHR3_5_CTG2_1
CHR_HSCHR3_5_CTG3
CHR_HSCHR3_6_CTG2_1
CHR_HSCHR3_6_CTG3
CHR_HSCHR3_7_CTG3
CHR_HSCHR3_8_CTG2_1
CHR_HSCHR3_8_CTG3
CHR_HSCHR3_9_CTG2_1
CHR_HSCHR3_9_CTG3
CHR_HSCHR4_1_CTG4
CHR_HSCHR4_1_CTG6
CHR_HSCHR4_1_CTG9
CHR_HSCHR4_1_CTG12
CHR_HSCHR4_2_CTG4
CHR_HSCHR4_2_CTG12
CHR_HSCHR4_3_CTG12
CHR_HSCHR4_4_CTG12
CHR_HSCHR4_5_CTG12
CHR_HSCHR4_6_CTG12
CHR_HSCHR4_7_CTG12
CHR_HSCHR4_8_CTG12
CHR_HSCHR4_9_CTG12
CHR_HSCHR4_11_CTG12
CHR_HSCHR4_12_CTG12
CHR_HSCHR5_1_CTG1
CHR_HSCHR5_1_CTG1_1
CHR_HSCHR5_1_CTG5
CHR_HSCHR5_2_CTG1
CHR_HSCHR5_2_CTG1_1
CHR_HSCHR5_2_CTG5
CHR_HSCHR5_3_CTG1
CHR_HSCHR5_3_CTG5
CHR_HSCHR5_4_CTG1
CHR_HSCHR5_4_CTG1_1
CHR_HSCHR5_5_CTG1
CHR_HSCHR5_6_CTG1
CHR_HSCHR5_7_CTG1
CHR_HSCHR5_8_CTG1
CHR_HSCHR6_MHC_APD_CTG1
CHR_HSCHR6_MHC_COX_CTG1
CHR_HSCHR6_MHC_DBB_CTG1
CHR_HSCHR6_MHC_MANN_CTG1
CHR_HSCHR6_MHC_MCF_CTG1
CHR_HSCHR6_MHC_QBL_CTG1
CHR_HSCHR6_MHC_SSTO_CTG1
CHR_HSCHR6_1_CTG2
CHR_HSCHR6_1_CTG3
CHR_HSCHR6_1_CTG4
CHR_HSCHR6_1_CTG5
CHR_HSCHR6_1_CTG6
CHR_HSCHR6_1_CTG7
CHR_HSCHR6_1_CTG8
CHR_HSCHR6_1_CTG9
CHR_HSCHR6_8_CTG1
CHR_HSCHR7_1_CTG1
CHR_HSCHR7_1_CTG4_4
CHR_HSCHR7_1_CTG6
CHR_HSCHR7_1_CTG7
CHR_HSCHR7_2_CTG1
CHR_HSCHR7_2_CTG4_4
CHR_HSCHR7_2_CTG6
CHR_HSCHR7_2_CTG7
CHR_HSCHR7_3_CTG1
CHR_HSCHR7_3_CTG4_4
CHR_HSCHR7_3_CTG6
CHR_HSCHR8_1_CTG1
CHR_HSCHR8_1_CTG6
CHR_HSCHR8_1_CTG7
CHR_HSCHR8_2_CTG1
CHR_HSCHR8_2_CTG7
CHR_HSCHR8_3_CTG1
CHR_HSCHR8_3_CTG7
CHR_HSCHR8_4_CTG1
CHR_HSCHR8_4_CTG7
CHR_HSCHR8_5_CTG1
CHR_HSCHR8_5_CTG7
CHR_HSCHR8_6_CTG1
CHR_HSCHR8_7_CTG1
CHR_HSCHR8_7_CTG7
CHR_HSCHR8_8_CTG1
CHR_HSCHR8_9_CTG1
CHR_HSCHR9_1_CTG1
CHR_HSCHR9_1_CTG2
CHR_HSCHR9_1_CTG3
CHR_HSCHR9_1_CTG4
CHR_HSCHR9_1_CTG5
CHR_HSCHR9_1_CTG6
CHR_HSCHR10_1_CTG1
CHR_HSCHR10_1_CTG2
CHR_HSCHR10_1_CTG3
CHR_HSCHR10_1_CTG4
CHR_HSCHR10_1_CTG6
CHR_HSCHR11_1_CTG1_2
CHR_HSCHR11_1_CTG3_1
CHR_HSCHR11_1_CTG5
CHR_HSCHR11_1_CTG6
CHR_HSCHR11_1_CTG7
CHR_HSCHR11_1_CTG8
CHR_HSCHR11_2_CTG1
CHR_HSCHR11_2_CTG1_1
CHR_HSCHR11_2_CTG8
CHR_HSCHR11_3_CTG1
CHR_HSCHR12_1_CTG1
CHR_HSCHR12_1_CTG2_1
CHR_HSCHR12_2_CTG2
CHR_HSCHR12_2_CTG2_1
CHR_HSCHR12_3_CTG2
CHR_HSCHR12_3_CTG2_1
CHR_HSCHR12_4_CTG2
CHR_HSCHR12_4_CTG2_1
CHR_HSCHR12_5_CTG2
CHR_HSCHR12_5_CTG2_1
CHR_HSCHR12_6_CTG2_1
CHR_HSCHR12_8_CTG2_1
CHR_HSCHR12_9_CTG2_1
CHR_HSCHR13_1_CTG1
CHR_HSCHR13_1_CTG3
CHR_HSCHR13_1_CTG5
CHR_HSCHR14_1_CTG1
CHR_HSCHR14_2_CTG1
CHR_HSCHR14_3_CTG1
CHR_HSCHR14_7_CTG1
CHR_HSCHR14_8_CTG1
CHR_HSCHR14_9_CTG1
CHR_HSCHR15_1_CTG1
CHR_HSCHR15_1_CTG3
CHR_HSCHR15_1_CTG8
CHR_HSCHR15_2_CTG3
CHR_HSCHR15_2_CTG8
CHR_HSCHR15_3_CTG3
CHR_HSCHR15_3_CTG8
CHR_HSCHR15_4_CTG8
CHR_HSCHR15_5_CTG8
CHR_HSCHR15_6_CTG8
CHR_HSCHR16_CTG2
CHR_HSCHR16_1_CTG1
CHR_HSCHR16_1_CTG3_1
CHR_HSCHR16_2_CTG3_1
CHR_HSCHR16_3_CTG1
CHR_HSCHR16_4_CTG1
CHR_HSCHR16_4_CTG3_1
CHR_HSCHR16_5_CTG1
CHR_HSCHR16_5_CTG3_1
CHR_HSCHR17_1_CTG1
CHR_HSCHR17_1_CTG2
CHR_HSCHR17_1_CTG4
CHR_HSCHR17_1_CTG5
CHR_HSCHR17_1_CTG9
CHR_HSCHR17_2_CTG1
CHR_HSCHR17_2_CTG2
CHR_HSCHR17_2_CTG4
CHR_HSCHR17_2_CTG5
CHR_HSCHR17_3_CTG1
CHR_HSCHR17_3_CTG2
CHR_HSCHR17_3_CTG4
CHR_HSCHR17_4_CTG4
CHR_HSCHR17_5_CTG4
CHR_HSCHR17_6_CTG4
CHR_HSCHR17_7_CTG4
CHR_HSCHR17_8_CTG4
CHR_HSCHR17_9_CTG4
CHR_HSCHR17_10_CTG4
CHR_HSCHR17_11_CTG4
CHR_HSCHR17_12_CTG4
CHR_HSCHR18_ALT2_CTG2_1
CHR_HSCHR18_ALT21_CTG2_1
CHR_HSCHR18_1_CTG1
CHR_HSCHR18_1_CTG1_1
CHR_HSCHR18_1_CTG2_1
CHR_HSCHR18_2_CTG1_1
CHR_HSCHR18_2_CTG2
CHR_HSCHR18_2_CTG2_1
CHR_HSCHR18_3_CTG2_1
CHR_HSCHR18_5_CTG1_1
CHR_HSCHR19_1_CTG2
CHR_HSCHR19_1_CTG3_1
CHR_HSCHR19_2_CTG2
CHR_HSCHR19_2_CTG3_1
CHR_HSCHR19_3_CTG2
CHR_HSCHR19_3_CTG3_1
CHR_HSCHR19_4_CTG2
CHR_HSCHR19_4_CTG3_1
CHR_HSCHR19_5_CTG2
CHR_HSCHR19KIR_ABC08_AB_HAP_C_P_CTG3_1
CHR_HSCHR19KIR_ABC08_AB_HAP_T_P_CTG3_1
CHR_HSCHR19KIR_ABC08_A1_HAP_CTG3_1
CHR_HSCHR19KIR_CA01-TA01_1_CTG3_1
CHR_HSCHR19KIR_CA01-TA01_2_CTG3_1
CHR_HSCHR19KIR_CA01-TB01_CTG3_1
CHR_HSCHR19KIR_CA01-TB04_CTG3_1
CHR_HSCHR19KIR_CA04_CTG3_1
CHR_HSCHR19KIR_FH05_A_HAP_CTG3_1
CHR_HSCHR19KIR_FH05_B_HAP_CTG3_1
CHR_HSCHR19KIR_FH06_A_HAP_CTG3_1
CHR_HSCHR19KIR_FH06_BA1_HAP_CTG3_1
CHR_HSCHR19KIR_FH08_A_HAP_CTG3_1
CHR_HSCHR19KIR_FH08_BAX_HAP_CTG3_1
CHR_HSCHR19KIR_FH13_A_HAP_CTG3_1
CHR_HSCHR19KIR_FH13_BA2_HAP_CTG3_1
CHR_HSCHR19KIR_FH15_A_HAP_CTG3_1
CHR_HSCHR19KIR_FH15_B_HAP_CTG3_1
CHR_HSCHR19KIR_GRC212_AB_HAP_CTG3_1
CHR_HSCHR19KIR_GRC212_BA1_HAP_CTG3_1
CHR_HSCHR19KIR_G085_A_HAP_CTG3_1
CHR_HSCHR19KIR_G085_BA1_HAP_CTG3_1
CHR_HSCHR19KIR_G248_A_HAP_CTG3_1
CHR_HSCHR19KIR_G248_BA2_HAP_CTG3_1
CHR_HSCHR19KIR_HG2393_CTG3_1
CHR_HSCHR19KIR_HG2394_CTG3_1
CHR_HSCHR19KIR_HG2396_CTG3_1
CHR_HSCHR19KIR_LUCE_A_HAP_CTG3_1
CHR_HSCHR19KIR_LUCE_BDEL_HAP_CTG3_1
CHR_HSCHR19KIR_RP5_B_HAP_CTG3_1
CHR_HSCHR19KIR_RSH_A_HAP_CTG3_1
CHR_HSCHR19KIR_RSH_BA2_HAP_CTG3_1
CHR_HSCHR19KIR_T7526_A_HAP_CTG3_1
CHR_HSCHR19KIR_T7526_BDEL_HAP_CTG3_1
CHR_HSCHR19KIR_0010-5217-AB_CTG3_1
CHR_HSCHR19KIR_0019-4656-A_CTG3_1
CHR_HSCHR19KIR_0019-4656-B_CTG3_1
CHR_HSCHR19KIR_7191059-1_CTG3_1
CHR_HSCHR19KIR_7191059-2_CTG3_1
CHR_HSCHR19KIR_502960008-1_CTG3_1
CHR_HSCHR19KIR_502960008-2_CTG3_1
CHR_HSCHR19LRC_COX1_CTG3_1
CHR_HSCHR19LRC_COX2_CTG3_1
CHR_HSCHR19LRC_LRC_I_CTG3_1
CHR_HSCHR19LRC_LRC_J_CTG3_1
CHR_HSCHR19LRC_LRC_S_CTG3_1
CHR_HSCHR19LRC_LRC_T_CTG3_1
CHR_HSCHR19LRC_PGF1_CTG3_1
CHR_HSCHR19LRC_PGF2_CTG3_1
CHR_HSCHR20_1_CTG1
CHR_HSCHR20_1_CTG2
CHR_HSCHR20_1_CTG3
CHR_HSCHR20_1_CTG4
CHR_HSCHR21_2_CTG1_1
CHR_HSCHR21_3_CTG1_1
CHR_HSCHR21_4_CTG1_1
CHR_HSCHR21_5_CTG2
CHR_HSCHR21_6_CTG1_1
CHR_HSCHR21_8_CTG1_1
CHR_HSCHR22_1_CTG1
CHR_HSCHR22_1_CTG2
CHR_HSCHR22_1_CTG3
CHR_HSCHR22_1_CTG4
CHR_HSCHR22_1_CTG5
CHR_HSCHR22_1_CTG6
CHR_HSCHR22_1_CTG7
CHR_HSCHR22_2_CTG1
CHR_HSCHR22_3_CTG1
CHR_HSCHR22_4_CTG1
CHR_HSCHR22_5_CTG1
CHR_HSCHR22_6_CTG1
CHR_HSCHR22_7_CTG1
CHR_HSCHR22_8_CTG1
GL000009.2
GL000194.1
GL000195.1
GL000205.2
GL000213.1
GL000216.2
GL000218.1
GL000219.1
GL000220.1
GL000225.1
KI270442.1
KI270711.1
KI270713.1
KI270721.1
KI270726.1
KI270727.1
KI270728.1
KI270731.1
KI270733.1
KI270734.1
KI270744.1
KI270750.1
MT
X
Y

IG_C_gene
IG_C_pseudogene
IG_D_gene
IG_J_gene
IG_J_pseudogene
IG_pseudogene
IG_V_gene
IG_V_pseudogene
lncRNA
miRNA
misc_RNA
Mt_rRNA
Mt_tRNA
polymorphic_pseudogene
processed_pseudogene
protein_coding
pseudogene
ribozyme
rRNA
rRNA_pseudogene
scaRNA
scRNA
snoRNA
snRNA
sRNA
TEC
transcribed_processed_pseudogene
transcribed_unitary_pseudogene
transcribed_unprocessed_pseudogene
translated_processed_pseudogene
translated_unprocessed_pseudogene
TR_C_gene
TR_D_gene
TR_J_gene
TR_J_pseudogene
TR_V_gene
TR_V_pseudogene
unitary_pseudogene
unprocessed_pseudogene
vault_RNA

12p12.1 microdeletion syndrome
12p12.5 intragenic deletions associated with intellectual disability
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
15q11q13 microduplication syndrome
15q13.3 deletions phenocopy
15q13.3 microdeletion syndrome
15q14 microdeletion syndrome
15q24 microdeletion syndrome
16p13.2 microdeletion syndrome
16q24.3 microdeletion syndrome
17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
17p11.2 microduplication syndrome
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
17q12 microdeletion syndrome
17q21.31 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
17q24.2 microdeletion syndrome
19p13.3 microduplication syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p36 deletion syndrome
1q44 microdeletion syndrome
2-aminoadipic 2-oxoadipic aciduria
2-Aminoadipic and 2-Oxoadipic Aciduria
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
20p12.3 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11.2 Deletion Syndrome
22q11.2 duplication syndrome
24-Dienoyl-CoA Reductase Deficiency
26708094
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q24 microdeletion syndrome
2q32q33 microdeletion syndrome
2q37 microdeletion syndrome
3-hydroxy-3-methylglutaric aciduria
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
3-HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
3-M syndrome 1
3-M syndrome 2
3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-METHYLGLUTACONIC ACIDURIA TYPE I
3-METHYLGLUTACONIC ACIDURIA TYPE III
3-METHYLGLUTACONIC ACIDURIA TYPE IX
3-METHYLGLUTACONIC ACIDURIA TYPE V
3-METHYLGLUTACONIC ACIDURIA TYPE VII
3-Methylglutaconic aciduria type VII with cataracts neurologic involvement and ...
3-METHYLGLUTACONIC ACIDURIA TYPE VIII
3-methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome
3-phosphoglycerate dehydrogenase deficiency infantile/juvenile form
3-phosphoserine phosphatase deficiency infantile/juvenile form
3C syndrome
3M syndrome
3MC
3MC syndrome
3MC SYNDROME 1
3MC SYNDROME 2
3MC SYNDROME 3
45X/46XY mixed gonadal dysgenesis
46XX gonadal dysgenesis
46XX ovarian dysgenesis-short stature syndrome
46XX ovotesticular disorder of sex development
46XX SEX REVERSAL 1
46XX SEX REVERSAL 4
46XX SEX REVERSAL 5
46XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS ADRENALS AND LUNGS
46XX testicular disorder of sex development
46XY complete gonadal dysgenesis
46XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 ...
46XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46XY disorder of sex development due to isolated 17 20 lyase deficiency
46XY disorder of sex development due to testicular 1720-desmolase deficiency
46XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY
46XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46XY partial gonadal dysgenesis
46XY SEX REVERSAL 1
46XY sex reversal 11
46XY SEX REVERSAL 2
46XY SEX REVERSAL 3
46XY SEX REVERSAL 5
46XY SEX REVERSAL 6
46XY SEX REVERSAL 7
46XY SEX REVERSAL 8
46XY sex reversal 9
5-Oxoprolinase deficiency
5p13 microduplication syndrome
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency
6q terminal deletion syndrome
6q16 microdeletion syndrome
6q25 microdeletion syndrome
7q31 microdeletion syndrome
8p11.2 deletion syndrome
8p23.1 microdeletion syndrome
8Q24.3 DELETION-LIKE
8q24.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
AA amyloidosis
AApoAI amyloidosis
AApoAII amyloidosis
Aarskog-Scott syndrome
ABAT-related GABA-transaminase Deficiency
ABCB11-Related Intrahepatic Cholestasis
ABCD syndrome
ABDOMINAL OBESITY-METABOLIC SYNDROME 1
ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABeta amyloidosis Arctic type
ABeta amyloidosis Dutch type
ABeta amyloidosis Iowa type
ABeta amyloidosis Italian type
ABetaA21G amyloidosis
ABetaL34V amyloidosis
ABETALIPOPROTEINEMIA
Ablepharon macrostomia syndrome
Ablepharon-Macrostomia syndrome
ABNORMAL HAIR JOINT LAXITY AND DEVELOPMENTAL DELAY
ABri amyloidosis
Abruzzo-Erickson syndrome
Absence of fingerprints-congenital milia syndrome
ACATALASEMIA
Accelerated tumor formation susceptibility to
Aceruloplasminemia
ACERULOPLASMINEMIAHYPOCERULOPLASMINEMIA INCLUDED
Acetazolamide-responsive myotonia
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY
ACETYL-CoA CARBOXYLASE DEFICIENCY
Acetylation slow
Achalasia-Addisonianism-Alacrima syndrome
Acheiropodia
ACHEIROPODY
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
ACHONDROGENESIS TYPE IA
ACHONDROGENESIS TYPE IB
ACHONDROGENESIS TYPE II
Achondroplasia
ACHONDROPLASIA SEVERE WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
Achromatopsia
ACHROMATOPSIA 2
Achromatopsia 3
Achromatopsia 4
ACHROMATOPSIA 7
ACID PHOSPHATASE DEFICIENCY
Acid-labile subunit deficiency
ACNE INVERSA FAMILIAL 1
ACNE INVERSA FAMILIAL 2 WITH OR WITHOUT DOWLING-DEGOS DISEASE
ACNE INVERSA FAMILIAL 3
Acquired idiopathic sideroblastic anemia
Acquired partial lipodystrophy
Acquired schizencephaly
Acral dystrophic epidermolysis bullosa
Acral peeling skin syndrome
Acral self-healing collodion baby
Acro-Renal-Ocular syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
acrocephalopolysyndactyly type 2
ACROCEPHALOSYNDACTYLY TYPE V
Acrodermatitis continua of Hallopeau
Acrodermatitis enteropathica
ACRODERMATITIS ENTEROPATHICA ZINC-DEFICIENCY TYPE
Acrodysostosis
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
Acrodysostosis with multiple hormone resistance
ACROFACIAL DYSOSTOSIS 1 NAGER TYPE
Acrofacial dysostosis cincinnati type
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis Weyers type
Acrogeria
Acrokeratosis verruciformis
Acrokeratosis verruciformis of Hopf
Acromegaloid facial appearance syndrome
Acromegaly
Acromelic frontonasal dysostosis
Acromelic frontonasal dysplasia
ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE
ACROMESOMELIC DYSPLASIA DEMIRHAN TYPE
Acromesomelic dysplasia Grebe type
ACROMESOMELIC DYSPLASIA HUNTER-THOMPSON TYPE
Acromesomelic dysplasia Maroteaux type
ACROMICRIC DYSPLASIA
Acroosteolysis dominant type
Acroosteolysis-keloid-like lesions-premature aging syndrome
ACTB Haploinsufficiency syndtome
ACTH deficiency isolated
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
Action myoclonus - renal failure syndrome
Activated PI3K-delta syndrome
Actn3 deficiency
Acute basophilic leukemia
Acute encephalopathy with biphasic seizures and late reduced diffusion
Acute fatty liver of pregnancy
Acute Febrile Encephalopathy
Acute Hepatic Porphyria
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor ...
Acute infantile liver failure-multisystemic involvement syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Acute intermittent porphyria
ACUTE LIVER FAILURE ALF IN INFANCY AND CHILDHOOD; SHORT STATURE OPTIC NERVE AND ...
Acute mast cell leukemia
Acute megakaryoblastic leukemia in Down syndrome
Acute megakaryoblastic leukemia without Down syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukaemia with myelodysplasia-related features
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with abnormal bone marrow eosinophils inv16p13q22 or t16
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with inv3q21q26.2 or t3
Acute myeloid leukemia with minimal differentiation
Acute myeloid leukemia with NPM1 somatic mutations
Acute myeloid leukemia with t6
Acute myeloid leukemia with t8
Acute myeloid leukemia with t9
ACUTE NECROTIZING ENCEPHALOPATHY 1 SUSCEPTIBILITY TO
Acute necrotizing encephalopathy of childhood
Acute neonatal citrullinemia type I
ACUTE PROMYELOCYTIC LEUKEMIA
Acute undifferentiated leukemia
Acyl-CoA dehydrogenase 9 deficiency
acyl-CoA dehydrogenase family member type 9 deficiency
ACYL-CoA DEHYDROGENASE MEDIUM-CHAIN DEFICIENCY OF
ACYL-CoA DEHYDROGENASE SHORT-CHAIN DEFICIENCY OF
ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF
ACys amyloidosis
Adams Oliver syndrome
Adams-Oliver syndrome
ADAMS-OLIVER SYNDROME 1
Adams-Oliver syndrome 2
ADAMS-OLIVER SYNDROME 3
ADAMS-OLIVER SYNDROME 4
Adams-Oliver syndrome 5
ADAMS-OLIVER SYNDROME 6
ADan amyloidosis
ADARB1-associated Microcephaly Intellectual Disability and Seizures
ADCY5-related developmental disorder monoallelic
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma of ovary
Adenosine Deaminase Deficiency
Adenosine monophosphate deaminase deficiency
Adenosine triphosphate elevated of erythrocytes
ADENYLATE KINASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO
Adenylosuccinase deficiency
Adenylosuccinate lyase deficiency
Adenylosuccinate synthetase-like 1-related distal myopathy
Adermatoglyphia
ADIPONECTIN SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS 1
ADNP syndrome
ADRENAL HYPERPLASIA CONGENITAL DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
ADRENAL HYPERPLASIA CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY
ADRENAL HYPERPLASIA CONGENITAL DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 ...
ADRENAL HYPERPLASIA CONGENITAL DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
ADRENAL HYPOPLASIA CONGENITAL
ADRENAL INSUFFICIENCY CONGENITAL WITH 46XY SEX REVERSAL PARTIAL OR COMPLETE
Adrenocortical carcinoma
ADRENOCORTICAL CARCINOMA HEREDITARY
Adrenoleukodystrophy
ADRENOLEUKODYSTROPHY PSEUDONEONATAL
Adrenoleukodystrophy X-Linked
Adrenomyeloneuropathy
Adult hepatocellular carcinoma
Adult hypophosphatasia
Adult Krabbe disease
Adult polyglucosan body disease
Adult syndrome
Adult-onset autosomal dominant leukodystrophy
Adult-onset autosomal recessive cerebellar ataxia
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset cervical dystonia DYT23 type
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial ...
Adult-onset citrullinemia type I
Adult-onset distal myopathy due to VCP mutation
Adult-onset dystonia-parkinsonism
Adult-onset foveomacular vitelliform dystrophy
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset myasthenia gravis
ADVANCED SLEEP PHASE SYNDROME FAMILIAL 1
ADVANCED SLEEP PHASE SYNDROME FAMILIAL 2
ADVANCED SLEEP PHASE SYNDROME FAMILIAL 3
AFib amyloidosis
AFIBRINOGENEMIA CONGENITAL HYPOFIBRINOGENEMIA CONGENITAL INCLUDED
AGAMMAGLOBULINEMIA 2 AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 3 AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 4 AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 5 AUTOSOMAL DOMINANT
AGAMMAGLOBULINEMIA 6 AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7 AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 8 AUTOSOMAL DOMINANT
Agammaglobulinemia X-Linked
AGel amyloidosis
AGENESIS OF CORPUS CALLOSUM CARDIAC OCULAR AND GENITAL SYNDROME
AGENESIS OF THE CORPUS CALLOSUM
AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR ...
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
Aggressive systemic mastocytosis
Agnathia-holoprosencephaly-situs inversus syndrome
Agnathia-otocephaly complex
AGNATHIA-OTOCEPHALY COMPLEX biallelic
AGNATHIA-OTOCEPHALY COMPLEX monoallelic
AGO1-related developmental disorder monoallelic
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism ...
AICA-ribosiduria
AICA-RIBOSURIA
AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
Aicardi-Goutieres syndrome
AICARDI-GOUTIERES SYNDROME 1
Aicardi-Goutieres syndrome 1 dominant and recessive
AICARDI-GOUTIERES SYNDROME 2
AICARDI-GOUTIERES SYNDROME 3
AICARDI-GOUTIERES SYNDROME 4
AICARDI-GOUTIERES SYNDROME 5
AICARDI-GOUTIERES SYNDROME 6
Aicardi-Goutieres syndrome 7
AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE
AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE ...
AKT2-related familial partial lipodystrophy
AL KAISSI SYNDROME
Al-Gazali syndrome
AL-GAZALI-BAKALINOVA SYNDROME
AL-RAQAD SYNDROME
Alacrima achalasia and mental retardation syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Alagille Syndrome
Alagille syndrome 1
Alagille syndrome 2
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
ALAND ISLAND EYE DISEASE
Aland Islands eye disease
ALAZAMI SYNDROME
ALAZAMI-YUAN SYNDROME
Albers-Schonberg osteopetrosis
ALBINISM OCULAR TYPE I
ALBINISM OCULOCUTANEOUS TYPE IA
ALBINISM OCULOCUTANEOUS TYPE IB
ALBINISM OCULOCUTANEOUS TYPE II
ALBINISM OCULOCUTANEOUS TYPE III
ALBINISM OCULOCUTANEOUS TYPE IV
Albinism oculocutaneous type VI
ALBINISM OCULOCUTANEOUS TYPE VII
ALBRIGHT HEREDITARY OSTEODYSTROPHY
Alcohol dependence
ALCOHOL SENSITIVITY ACUTE HANGOVER SUSCEPTIBILITY TO INCLUDED
ALDEHYDE DEHYDROGENASE 2 FAMILY
ALDH18A1-related De Barsy syndrome
Alexander disease
Alexander disease type I
Alexander disease type II
ALG1-CDG
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG2-CDG
ALG3-CDG
ALG6-CDG
ALG8-CDG
ALG9-CDG
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Alkaline ceramidase 3 deficiency
Alkaptonuria
ALKURAYA-KUCINSKAS SYNDROME
ALLAN-HERNDON-DUDLEY SYNDROME
ALLANTOICASE
Allergic rhinitis
Alobar holoprosencephaly
Alopecia and T-Cell Immunodeficiency
ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME
Alopecia universalis
ALOPECIA UNIVERSALIS CONGENITA
Alopecia-intellectual disability syndrome
ALOPECIA-MENTAL RETARDATION SYNDROME 1
ALOPECIA-MENTAL RETARDATION SYNDROME 4
Alpers-Huttenlocher syndrome
Alpha delta granule deficiency
ALPHA-1-ANTITRYPSIN DEFICIENCY
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
ALPHA-2C-ADRENERGIC RECEPTOR
Alpha-B crystallin-related late-onset myopathy
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
ALPHA-FETOPROTEIN DEFICIENCY
Alpha-fetoprotein hereditary persistence of
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
Alpha-mannosidosis adult form
Alpha-mannosidosis infantile form
ALPHA-METHYLACETOACETIC ACIDURIA
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
ALPHA-THALASSEMIA
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
Alpha-thalassemia - myelodysplastic syndrome
ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE
ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME
Alpha-thalassemia-X-linked intellectual disability syndrome
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME X-LINKED
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION SEVERE AND ...
ALPORT SYNDROME 1 X-LINKED
ALPORT SYNDROME 2 AUTOSOMAL RECESSIVE
Alport syndrome 3 autosomal dominant
Alport syndrome autosomal dominant
ALPORT SYNDROME AUTOSOMAL RECESSIVE
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis ...
Als2-Related disorders
Alstrom syndrome
ALTERNATING HEMIPLEGIA OF CHILDHOOD
Alternating hemiplegia of childhood 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar rhabdomyosarcoma
ALVEOLAR SOFT PART SARCOMA
Alveolar soft-tissue sarcoma
ALys amyloidosis
Alzheimer disease
ALZHEIMER DISEASE 18
Alzheimer disease 2
Alzheimer disease 3
ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 9 SUSCEPTIBILITY TO
AMEGAKARYOCYTIC THROMBOCYTOPENIA CONGENITAL
AMELIA POSTERIOR WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME
Amelocerebrohypohidrotic syndrome
Amelogenesis imperfecta and gingival fibromatosis syndrome
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA1
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA2
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA3
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA4
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA5
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE IIA6
Amelogenesis imperfecta type IA
AMELOGENESIS IMPERFECTA TYPE IB
AMELOGENESIS IMPERFECTA TYPE IC
AMELOGENESIS IMPERFECTA TYPE IE
AMELOGENESIS IMPERFECTA TYPE IF
AMELOGENESIS IMPERFECTA TYPE IG
AMELOGENESIS IMPERFECTA TYPE IH
AMELOGENESIS IMPERFECTA TYPE IIIA
AMELOGENESIS IMPERFECTA TYPE IIIB
AMELOGENESIS IMPERFECTA TYPE IIIC
AMELOGENESIS IMPERFECTA TYPE IJ
AMELOGENESIS IMPERFECTA TYPE IV
AMELOGENESIS IMPERFECTA.
Aminoacylase 1 deficiency
Aminoacylase-1 deficiency
AMISH INFANTILE EPILEPSY SYNDROME
Amish lethal microcephaly
Amish nemaline myopathy
Amyelogenesis
Amyloidosis cutis dyschromia
AMYLOIDOSIS FAMILIAL VISCERAL
AMYLOIDOSIS FINNISH TYPE
AMYLOIDOSIS HEREDITARY TRANSTHYRETIN-RELATED
AMYLOIDOSIS PRIMARY LOCALIZED CUTANEOUS 1
AMYLOIDOSIS PRIMARY LOCALIZED CUTANEOUS 2
AMYLOIDOSIS PRIMARY LOCALIZED CUTANEOUS 3
Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 12
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 16 JUVENILE
AMYOTROPHIC LATERAL SCLEROSIS 17
AMYOTROPHIC LATERAL SCLEROSIS 18
Amyotrophic lateral sclerosis 19
AMYOTROPHIC LATERAL SCLEROSIS 2 JUVENILE
Amyotrophic lateral sclerosis 20
AMYOTROPHIC LATERAL SCLEROSIS 21
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
AMYOTROPHIC LATERAL SCLEROSIS 23
AMYOTROPHIC LATERAL SCLEROSIS 4 JUVENILE
AMYOTROPHIC LATERAL SCLEROSIS 5 JUVENILE
AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 8
AMYOTROPHIC LATERAL SCLEROSIS 9
AMYOTROPHIC LATERAL SCLEROSIS SUSCEPTIBILITY TO 24
AMYOTROPHIC LATERAL SCLEROSIS SUSCEPTIBILITY TO 25
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
AMYOTROPHY HEREDITARY NEURALGIC
Analbuminemia
Anaplastic astrocytoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anauxetic dysplasia
ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 2
ANAUXETIC DYSPLASIA 3
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Andersen-Tawil Syndrome
ANDROGEN INSENSITIVITY PARTIAL
ANDROGEN INSENSITIVITY SYNDROME
ANE syndrome
ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE Ia
ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE Ib
ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE II
ANEMIA CONGENITAL DYSERYTHROPOIETIC TYPE IV
ANEMIA DYSERYTHROPOIETIC CONGENITAL TYPE II
ANEMIA DYSERYTHROPOIETIC CONGENITAL TYPE IV
ANEMIA HYPOCHROMIC MICROCYTIC WITH IRON OVERLOAD 1
ANEMIA HYPOCHROMIC MICROCYTIC WITH IRON OVERLOAD 2
Anemia nonspherocytic hemolytic due to g6pd deficiency
ANEMIA SIDEROBLASTIC 1
ANEMIA SIDEROBLASTIC 2 PYRIDOXINE-REFRACTORY
ANEMIA SIDEROBLASTIC 3 PYRIDOXINE-REFRACTORY
ANEMIA SIDEROBLASTIC 4
Anemia sideroblastic and spinocerebellar ataxia
ANEMIA SIDEROBLASTIC PYRIDOXINE-REFRACTORY AUTOSOMAL RECESSIVE
Anemia sideroblastic with ataxia
ANEMIA X-LINKED WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
Anencephaly
ANEURYSM INTRACRANIAL BERRY 12
Aneurysm-osteoarthritis syndrome
Angel-shaped phalango-epiphyseal dysplasia
Angelman syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Angiocentric glioma
ANGIOEDEMA HEREDITARY TYPE I
ANGIOEDEMA HEREDITARY TYPE III
ANGIOEDEMA INDUCED BY ACE INHIBITORS SUSCEPTIBILITY TO
Angiopathy hereditary with nephropathy aneurysms and muscle cramps
ANGIOTENSIN I-CONVERTING ENZYME
ANGIOTENSINOGEN
ANGPT1-related hereditary angioedema with normal C1Inh
Anhaptoglobinemia
ANHIDROSIS ISOLATED WITH NORMAL SWEAT GLANDS
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema ...
Aniridia
ANIRIDIA 1
ANIRIDIA 2
ANIRIDIA 3
Aniridia-cerebellar ataxia-intellectual disability syndrome
ANK2-related neurodevelopmental disorder
ANK3-related intellectual disability-sleep disturbance syndrome
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Annular epidermolytic ichthyosis
Anoctamin-5-related limb-girdle muscular dystrophy R12
Anonychia congenita
Anonychia congenita totalis
Anophthalmia/Microphthalmia
Anophthalmia/microphthalmia-esophageal atresia syndrome
ANOREXIA NERVOSA SUSCEPTIBILITY TO
Antenatal Bartter syndrome
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Anterior segment developmental anomaly
Anterior Segment Dysgenesis
ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 2
ANTERIOR SEGMENT DYSGENESIS 3
ANTERIOR SEGMENT DYSGENESIS 4
ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 8
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
Antithrombin III deficiency
Antley-Bixler syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
ANXIETYHARM AVOIDANCE INCLUDED
AORTIC ANEURYSM FAMILIAL THORACIC 10
AORTIC ANEURYSM FAMILIAL THORACIC 11 SUSCEPTIBILITY TO
Aortic aneurysm familial thoracic 4
AORTIC ANEURYSM FAMILIAL THORACIC 6
AORTIC ANEURYSM FAMILIAL THORACIC 7
Aortic aneurysm familial thoracic 8
Aortic aneurysm familial thoracic 9
AORTIC VALVE DISEASE 1
AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 3
AP2S1-related developmental disorder monoallelic
APC-related attenuated familial adenomatous polyposis
APERT SYNDROME
Aplasia cutis congenita
APLASIA CUTIS CONGENITA NONSYNDROMIC
APLASIA OF LACRIMAL AND SALIVARY GLANDS
APLASTIC ANEMIA APLASTIC ANEMIA SUSCEPTIBILITY TO INCLUDED
APOCRINE GLAND SECRETION VARIATION IN
APOLIPOPROTEIN A-I DEFICIENCY
APOLIPOPROTEIN A-II
APOLIPOPROTEIN C-II DEFICIENCY
APOLIPOPROTEIN C-III DEFICIENCY
APPARENT MINERALOCORTICOID EXCESS
Aquagenic palmoplantar keratoderma
ARBOLEDA-THAM SYNDROME
ARF1-related developmental disorder monoallelic
ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
Argininemia
Argininosuccinate Lyase Deficiency
ARGININOSUCCINIC ACIDURIA
ARHGAP35-related developmental disorder monoallelic
ARHGEF9-related developmental disorder X-linked dominant
ARID2-Coffin-Siris like disorder
Arnold-Chiari malformation type I
Arnold-Chiari malformation type II
ARNT2-associated hypopituitarism post-natal microcephaly visual and renal ...
AROMATASE DEFICIENCY
AROMATASE EXCESS SYNDROME
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 1
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 10
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 11
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 12
Arrhythmogenic right ventricular dysplasia familial 13
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 14
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 5
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 8
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 9
ARTERIAL CALCIFICATION GENERALIZED OF INFANCY 1
Arterial calcification generalized of infancy 2
ARTERIAL TORTUOSITY SYNDROME
ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
Arthrochalasia Ehlers-Danlos syndrome
ARTHROGRYPOSIS CLEFT PALATE CRANIOSYNOSTOSIS AND IMPAIRED INTELLECTUAL ...
ARTHROGRYPOSIS DISTAL TYPE 1
ARTHROGRYPOSIS DISTAL TYPE 1A
ARTHROGRYPOSIS DISTAL TYPE 1B
ARTHROGRYPOSIS DISTAL TYPE 1C
ARTHROGRYPOSIS DISTAL TYPE 2A
ARTHROGRYPOSIS DISTAL TYPE 2B1
ARTHROGRYPOSIS DISTAL TYPE 2B2
ARTHROGRYPOSIS DISTAL TYPE 2B3
Arthrogryposis distal type 3
ARTHROGRYPOSIS DISTAL TYPE 5
ARTHROGRYPOSIS DISTAL TYPE 5D
ARTHROGRYPOSIS DISTAL TYPE 7
ARTHROGRYPOSIS DISTAL WITH IMPAIRED PROPRIOCEPTION AND TOUCH
Arthrogryposis lethal with anterior horn cell disease
ARTHROGRYPOSIS MENTAL RETARDATION AND SEIZURES
Arthrogryposis multiplex congenita
ARTHROGRYPOSIS MULTIPLEX CONGENITA 1 NEUROGENIC WITH MYELIN DEFECT
ARTHROGRYPOSIS MULTIPLEX CONGENITA 2 NEUROGENIC TYPE
ARTHROGRYPOSIS MULTIPLEX CONGENITA 3 MYOGENIC TYPE
ARTHROGRYPOSIS MULTIPLEX CONGENITA 4 NEUROGENIC WITH AGENESIS OF THE CORPUS ...
ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
Arthrogryposis Multiplex Congenita and Intellectual Disability
ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY hemizygous
ARTHROGRYPOSIS PERTHES DISEASE AND UPWARD GAZE PALSY
ARTHROGRYPOSIS RENAL DYSFUNCTION AND CHOLESTASIS 1
Arthrogryposis renal dysfunction and cholestasis 2
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis-anterior horn cell disease syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Arts syndrome
Arylsulfatase A Deficiency
Asparagine synthetase deficiency
ASPARTATE AMINOTRANSFERASE SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS 1
ASPARTYLGLUCOSAMINURIA
ASPERGER
ASPERGER SYNDROME X-LINKED SUSCEPTIBILITY TO 1
ASPERGER SYNDROME X-LINKED SUSCEPTIBILITY TO 2
Aspergillosis susceptibility to
ASPHYXIATING THORACIC DYSTROPHY 2
Asphyxiating thoracic dystrophy 5
ASPLENIA ISOLATED CONGENITAL
ASTHMA NASAL POLYPS AND ASPIRIN INTOLERANCE
ASTHMA SUSCEPTIBILITY TO
ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 1
ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 2
ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 5
ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 7
ATAD3A disorder - global developmental delay hypotonia optic atrophy axonal ...
Ataxia combined cerebellar and peripheral with hearing loss and diabetes ...
Ataxia dysmetria contractures and scoliosis with normal cognition but loss of ...
ATAXIA EARLY-ONSET WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
Ataxia posterior column with retinitis pigmentosa
ATAXIA SENSORY 1 AUTOSOMAL DOMINANT
Ataxia spastic 5 autosomal recessive
ATAXIA TELANGIECTASIA-LIKE DISORDER
Ataxia with Oculomotor Apraxia 1
Ataxia with vitamin E deficiency
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Ataxia-oculomotor apraxia 3
ATAXIA-OCULOMOTOR APRAXIA 4
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 4
Ataxia-Pancytopenia Syndrome
ATAXIA-TELANGIECTASIA
ATAXIA-TELANGIECTASIA VARIANT
Ataxia-telangiectasia-like disorder
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
Ataxia-telangiectasia-like disorder 2
Atelosteogenesis type 1
Atelosteogenesis type 3
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Athabaskan brainstem dysgenesis syndrome
ATHELIA
Athyreosis
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
ATP5F1D metabolic disorder
ATP6V0A1-related developmental disorder monoallelic
ATP6V0C-related Developmental Disorder
ATP8B1-Related Intrahepatic Cholestasis
Atransferrinemia
ATRIAL FIBRILLATION FAMILIAL 10
ATRIAL FIBRILLATION FAMILIAL 11
ATRIAL FIBRILLATION FAMILIAL 12
Atrial fibrillation familial 13
Atrial fibrillation familial 14
Atrial fibrillation familial 15
ATRIAL FIBRILLATION FAMILIAL 18
ATRIAL FIBRILLATION FAMILIAL 3
ATRIAL FIBRILLATION FAMILIAL 4
ATRIAL FIBRILLATION FAMILIAL 6
ATRIAL FIBRILLATION FAMILIAL 7
ATRIAL FIBRILLATION FAMILIAL 9
ATRIAL SEPTAL DEFECT 2
ATRIAL SEPTAL DEFECT 3
ATRIAL SEPTAL DEFECT 4
ATRIAL SEPTAL DEFECT 5
ATRIAL SEPTAL DEFECT 6
Atrial septal defect 7 with or without atrioventricular conduction defects
ATRIAL SEPTAL DEFECT 8
Atrial septal defect 9
Atrial septal defect ostium primum type
Atrial septal defect ostium secundum type
Atrial septal defect sinus venosus type
ATRIAL SEPTAL DEFECT TYPE 2
ATRIAL SEPTAL DEFECT TYPE 3
ATRIAL SEPTAL DEFECT TYPE 4
ATRIAL SEPTAL DEFECT TYPE 6
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
Atrial septal defect-atrioventricular conduction defects syndrome
Atrial standstill
ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 2
ATRICHIA WITH PAPULAR LESIONS
ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 4
Atrioventricular septal defect 5
ATRIOVENTRICULAR SEPTAL DEFECT SUSCEPTIBILITY TO 2
Atrophoderma vermiculata
ATTENTION DEFICIT-HYPERACTIVITY DISORDER
ATTENTION DEFICIT-HYPERACTIVITY DISORDER SUSCEPTIBILITY TO 7
Attenuated Chediak-Higashi syndrome
ATTRV122I amyloidosis
ATTRV30M amyloidosis
Atypical chronic myeloid leukemia
Atypical dentin dysplasia due to SMOC2 deficiency
Atypical dominant Fanconi syndrome with MODY
Atypical Gaucher disease due to saposin C deficiency
Atypical glycine encephalopathy
Atypical hemolytic uremic syndrome with complement gene abnormality
Atypical hemolytic-uremic syndrome with anti-factor H antibodies
Atypical hypotonia - cystinuria syndrome
Atypical juvenile parkinsonism
atypical Krabbe disease
Atypical Noonan syndrome
Atypical pantothenate kinase associated neurodegeneration
Atypical Rett syndrome
Atypical teratoid rhabdoid tumor
Atypical Werner syndrome
Au-Kline syndrome
AUDITORY NEUROPATHY AND OPTIC ATROPHY
Auditory neuropathy autosomal dominant 1
Auditory neuropathy-optic atrophy syndrome
Aural atresia congenital
Auriculocondylar syndrome
AURICULOCONDYLAR SYNDROME 1
AURICULOCONDYLAR SYNDROME 2
Auriculocondylar syndrome 3
Autism
Autism and Syndromic Intellectual Disability
Autism intellectual disability basal ganglia dysfunction and epilepsy
AUTISM OR INTELLECTUAL DISABILITY
Autism spectrum disorder due to AUTS2 deficiency
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autism Spectrum Disorders
AUTISM SUSCEPTIBILITY TO 15
AUTISM SUSCEPTIBILITY TO 16
AUTISM SUSCEPTIBILITY TO 17
AUTISM SUSCEPTIBILITY TO 18
AUTISM SUSCEPTIBILITY TO 19
AUTISM SUSCEPTIBILITY TO 20
AUTISM SUSCEPTIBILITY TO X-LINKED 1
AUTISM SUSCEPTIBILITY TO X-LINKED 2
AUTISM SUSCEPTIBILITY TO X-LINKED 3
AUTISM SUSCEPTIBILITY TO X-LINKED 4
AUTISM SUSCEPTIBILITY TO X-LINKED 5
AUTISM SUSCEPTIBILITY TO X-LINKED 6
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase ...
Autism/ID
AUTOIMMUNE DISEASE MULTISYSTEM INFANTILE-ONSET 1
AUTOIMMUNE DISEASE MULTISYSTEM INFANTILE-ONSET 2
AUTOIMMUNE DISEASE MULTISYSTEM WITH FACIAL DYSMORPHISM
AUTOIMMUNE DISEASE SUSCEPTIBILITY TO 1
AUTOIMMUNE DISEASE SUSCEPTIBILITY TO 6
AUTOIMMUNE DISEASE SYNDROMIC MULTISYSTEM
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections ...
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary syndrome ...
Autoimmune interstitial lung disease-arthritis syndrome
AUTOIMMUNE INTERSTITIAL LUNG JOINT AND KIDNEY DISEASE
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IIA
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE III
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE V
Autoimmune lymphoproliferative syndrome with recurrent viral infections
AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE I WITH OR WITHOUT REVERSIBLE METAPHYSEAL ...
Autoimmune Polyendocrinopathy Syndrome Type 1
Autoimmune polyendocrinopathy type 1
AUTOIMMUNE THYROID DISEASE SUSCEPTIBILITY TO 3
AUTOINFLAMMATION ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION
Autoinflammation antibody deficiency and immune dysregulation plcg2-associated
AUTOINFLAMMATION IMMUNE DYSREGULATION AND EOSINOPHILIA
Autoinflammation panniculitis and dermatosis syndrome
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
Autoinflammation with infantile enterocolitis
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autoinflammatory syndrome familial Behcet-like
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal agammaglobulinemia
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant Alport syndrome
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant brachyolmia
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal Dominant Coloboma
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant cutis laxa
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal dominant dopa-responsive dystonia
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant epidermolytic ichthyosis
Autosomal dominant epilepsy with auditory features
Autosomal dominant focal dystonia DYT25 type
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with ...
Autosomal dominant hyper IgE syndrome
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hypocalcemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant hypophosphatemic rickets
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic ...
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant keratitis
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant macrothrombocytopenia
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to ...
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to ...
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant multiple pterygium syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing dysplasia ...
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal dominant oculodentodigital dysplasia
Autosomal dominant omodysplasia
Autosomal dominant Opitz G/BBB syndrome
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy classic form
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant osteopetrosis type 1
Autosomal dominant otospondylomegaepiphyseal dysplasia
Autosomal dominant palmoplantar keratoderma and congenital alopecia
AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary microcephaly
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant Robinow syndrome
Autosomal dominant secondary polycythemia
Autosomal dominant severe congenital neutropenia
Autosomal dominant slowed nerve conduction velocity
Autosomal dominant spastic ataxia type 1
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 73
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9B
Autosomal dominant spondylocostal dysostosis
Autosomal dominant striatal neurodegeneration
Autosomal dominant thrombocytopenia with platelet secretion defect
Autosomal dominant vitreoretinochoroidopathy
Autosomal erythropoietic protoporphyria
Autosomal recessive Alport syndrome
Autosomal recessive anterior segment dysgenesis
Autosomal recessive ataxia Beauce type
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive brachyolmia
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ...
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ...
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome ...
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive cerebral atrophy
Autosomal recessive Charcot Marie Tooth disease type 2X
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive complex spastic paraplegia due to Kennedy pathway ...
Autosomal Recessive Complicated Spastic Paraparesis SPG23
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal Recessive Craniosynostosis
Autosomal Recessive Cutis Laxa
Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 2 classic type
Autosomal recessive cutis laxa type 2B
Autosomal recessive distal renal tubular acidosis
Autosomal recessive dopa-responsive dystonia
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive epidermolytic ichthyosis
Autosomal recessive extra-oral halitosis
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive hypophosphatemic rickets
Autosomal recessive infantile hypercalcemia
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Autosomal recessive isolated optic atrophy
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive malignant osteopetrosis
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to ...
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to ...
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to ...
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to ...
Autosomal Recessive Mental Retardation
Autosomal recessive multiple pterygium syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive nail dysplasia
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive non-syndromic sensorineural deafness type DFNB
AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA
Autosomal recessive omodysplasia
Autosomal recessive optic atrophy OPA7 type
AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
Autosomal recessive polycystic kidney disease
Autosomal recessive primary immunodeficiency with defective spontaneous natural ...
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive Robinow syndrome
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive sideroblastic anemia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 18
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 53
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 56
Autosomal recessive spastic paraplegia type 57
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 67
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 71
Autosomal recessive spastic paraplegia type 74
Autosomal recessive spastic paraplegia type 75
Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 77
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 9B
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spondylocostal dysostosis
Autosomal recessive spondylometaphyseal dysplasia Megarbane type
Autosomal recessive Stickler syndrome
AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Autosomal Recessive Wiedemann Rautenstrauch Syndrome
Autosomal semi-dominant severe lipodystrophic laminopathy
Autosomal spastic paraplegia type 30
Autosomal spastic paraplegia type 58
Autosomal spastic paraplegia type 72
Autosomal systemic lupus erythematosus
Autosomal thrombocytopenia with normal platelets
Autosomal- Recessive Intellectual Disability MRT5
Autosomal-Dominant Hypotrichosis Simplex
Autosomal-dominant microcephaly associated with lymphedema and/or ...
Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin syndrome
Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with ...
Autosomal-Recessive Cerebellar Ataxia with Spasticity.
Autosomal-Recessive Complete Congenital Stationary Night Blindness
Autosomal-Recessive cone-Rod dystrophy
Autosomal-Recessive Disorder with Congenital Cataracts Hearing Loss and Low and ...
Autosomal-Recessive Intellectual Disability and Microcephaly
Autosomal-Recessive microcephaly with chorioretinopathy.
Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal ...
AVASCULAR NECROSIS OF FEMORAL HEAD PRIMARY 1
AVASCULAR NECROSIS OF FEMORAL HEAD PRIMARY 2
Axenfeld anomaly
Axenfeld-Rieger syndrome
AXENFELD-RIEGER SYNDROME TYPE 1
AXENFELD-RIEGER SYNDROME TYPE 3
Axial Spondylometaphyseal Dysplasia
AXIN2-related attenuated familial adenomatous polyposis
Ayme-Gripp syndrome
B-cell chronic lymphocytic leukemia
B-CELL CLL/LYMPHOMA 2
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B4GALT1-CDG
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
BACTEREMIA SUSCEPTIBILITY TO 1
BACTEREMIA SUSCEPTIBILITY TO 2
Bacterial susceptibility due to TLR signaling pathway deficiency
Bainbridge-Ropers syndrome
BAKER-GORDON SYNDROME
Baller-Gerold syndrome
Bamforth-Lazarus syndrome
Band heterotopia
Bannayan-Riley-Ruvalcaba syndrome
BAP1-related tumor predisposition syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Baraitser-Winter syndrome
BARAITSER-WINTER SYNDROME 1
Baraitser-Winter Syndrome 2
Baratela Scott Syndrome
Barber-Say syndrome
Bardet-Biedl syndrome
BARDET-BIEDL SYNDROME 1
BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
BARDET-BIEDL SYNDROME 16
BARDET-BIEDL SYNDROME 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
BARDET-BIEDL SYNDROME 2
BARDET-BIEDL SYNDROME 20
BARDET-BIEDL SYNDROME 21
BARDET-BIEDL SYNDROME 3
BARDET-BIEDL SYNDROME 4
BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 8
BARDET-BIEDL SYNDROME 9
BARDET-BIEDL SYNDROME TYPE 1
BARDET-BIEDL SYNDROME TYPE 10
BARDET-BIEDL SYNDROME TYPE 11
BARDET-BIEDL SYNDROME TYPE 12
BARDET-BIEDL SYNDROME TYPE 13
BARDET-BIEDL SYNDROME TYPE 15
BARDET-BIEDL SYNDROME TYPE 2
BARDET-BIEDL SYNDROME TYPE 3
BARDET-BIEDL SYNDROME TYPE 4
BARDET-BIEDL SYNDROME TYPE 5
BARDET-BIEDL SYNDROME TYPE 7
BARDET-BIEDL SYNDROME TYPE 8
BARDET-BIEDL SYNDROME TYPE 9
BARE LYMPHOCYTE SYNDROME TYPE I
BARE LYMPHOCYTE SYNDROME TYPE II
BARRETT ESOPHAGUS
BART-PUMPHREY SYNDROME
Barth syndrome
Bartsocas-Papas syndrome
BARTTER SYNDROME TYPE 1 ANTENATAL
BARTTER SYNDROME TYPE 2 ANTENATAL
BARTTER SYNDROME TYPE 3
BARTTER SYNDROME TYPE 4A
BARTTER SYNDROME TYPE 4A NEONATAL WITH SENSORINEURAL DEAFNESS
BARTTER SYNDROME TYPE 4B
BARTTER SYNDROME TYPE 4B NEONATAL WITH SENSORINEURAL DEAFNESS
Bartter syndrome type 5 antenatal transient
BASAL CELL CARCINOMA SUSCEPTIBILITY TO 1
BASAL CELL CARCINOMA SUSCEPTIBILITY TO 7
Basal cell nevus syndrome
BASAL GANGLIA CALCIFICATION IDIOPATHIC 1
BASAL GANGLIA CALCIFICATION IDIOPATHIC 4
BASAL GANGLIA CALCIFICATION IDIOPATHIC 5
BASAL GANGLIA CALCIFICATION IDIOPATHIC 6
BASAL GANGLIA CALCIFICATION IDIOPATHIC 7 AUTOSOMAL RECESSIVE
BASAL GANGLIA CALCIFICATION IDIOPATHIC 8 AUTOSOMAL RECESSIVE
BASAL LAMINAR DRUSEN
Basan syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
BASILICATA-AKHTAR SYNDROME
Bathing suit ichthyosis
BCL11B-related developmental disorder monoallelic
Beare-Stevenson Cutis Gyrata syndrome
Beaulieu-Boycott-Innes syndrome
BECK-FAHRNER SYNDROME
BECKER MUSCULAR DYSTROPHY
Becker nevus syndrome
BECKWITH-WIEDEMANN SYNDROME
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to NSD1 mutation
Behavioral variant of frontotemporal dementia
Behcet disease
Behr syndrome
Benign adult familial myoclonic epilepsy
BENIGN CHRONIC PEMPHIGUS
Benign familial infantile epilepsy
Benign Familial Infantile Epilepsy and Infantile Convulsions with Syndrome ...
Benign familial mesial temporal lobe epilepsy
Benign familial neonatal epilepsy
Benign familial neonatal-infantile seizures
Benign hereditary chorea
BENIGN NEONATAL EPILEPSY TYPE 1
Benign paroxysmal torticollis of infancy
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Benign Samaritan congenital myopathy
BENT BONE DYSPLASIA SYNDROME
BENTA disease
BERNARD-SOULIER SYNDROME
BERNARD-SOULIER SYNDROME TYPE A2 AUTOSOMAL DOMINANT
Best vitelliform macular dystrophy
BESTROPHINOPATHY AUTOSOMAL RECESSIVE
BETA-1-ADRENERGIC RECEPTOR
BETA-2-ADRENERGIC RECEPTOR
BETA-AMINOISOBUTYRIC ACIDURIA
BETA-GLUCOPYRANOSIDE TASTING
Beta-ketothiolase deficiency
BETA-MANNOSIDOSIS
Beta-propeller protein-associated neurodegeneration
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
BETA-THALASSEMIA
BETA-THALASSEMIA DOMINANT INCLUSION BODY TYPE
BETA-THALASSEMIA INTERMEDIA
Beta-thalassemia major
Beta-thalassemia-X-linked thrombocytopenia syndrome
BETA-UREIDOPROPIONASE DEFICIENCY
BETHLEM MYOPATHY
Bethlem myopathy 1
BETHLEM MYOPATHY 2
BEUKES HIP DYSPLASIA
BH4-Deficient Hyperphenylalaninemia C
BICD2-related autosomal dominant childhood-onset proximal spinal muscular ...
BICRA-related Developmental Disorder
Bicuspid Aortic Valve and Aortic Aneurysm
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Bietti crystalline dystrophy
BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
Bifid uvula
Bifunctional enzyme deficiency
Bilateral diffuse polymicrogyria
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral microtia-deafness-cleft palate syndrome
Bilateral multicystic dysplastic kidney
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral perisylvian polymicrogyria
Bilateral striopallidodentate calcinosis
Bile acid CoA ligase deficiency and defective amidation
BILE ACID MALABSORPTION PRIMARY
BILE ACID SYNTHESIS DEFECT CONGENITAL 1
BILE ACID SYNTHESIS DEFECT CONGENITAL 2
BILE ACID SYNTHESIS DEFECT CONGENITAL 3
BILE ACID SYNTHESIS DEFECT CONGENITAL 4
BILE ACID SYNTHESIS DEFECT CONGENITAL 5
BILE ACID SYNTHESIS DEFECT CONGENITAL 6
Biliary atresia with splenic malformation syndrome
BILIRUBIN SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS 1
Biotin-thiamine-responsive basal ganglia disease
BIOTINIDASE DEFICIENCY
Birbeck granule deficiency
Birdshot chorioretinopathy
BIRK-BAREL SYNDROME
Birk-Landau-Perez syndrome
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blackfan-Diamond anemia
Bladder Cancer
BLADDER DYSFUNCTION AUTONOMIC WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT
Bladder exstrophy
Bladder exstrophy plus
BLAU SYNDROME
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to thromboxane synthesis deficiency
Bleeding disorder due to CalDAG-GEFI deficiency
Bleeding disorder due to P2Y12 defect
BLEEDING DISORDER PLATELET-TYPE 11
BLEEDING DISORDER PLATELET-TYPE 13 SUSCEPTIBILITY TO
BLEEDING DISORDER PLATELET-TYPE 15
BLEEDING DISORDER PLATELET-TYPE 16
BLEEDING DISORDER PLATELET-TYPE 17
BLEEDING DISORDER PLATELET-TYPE 18
BLEEDING DISORDER PLATELET-TYPE 19
BLEEDING DISORDER PLATELET-TYPE 20
Bleeding disorder platelet-type 21
BLEEDING DISORDER PLATELET-TYPE 22
BLEEDING DISORDER PLATELET-TYPE 8
Blepharo-cheilo-odontic syndrome
Blepharo-cheiro-dontic syndrome
BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 2
Blepharophimosis ptosis and epicanthus inversus
Blepharophimosis ptosis and epicanthus inversus syndrome
Blepharophimosis- mental retardation
Blepharophimosis-intellectual disability syndrome MKB type
Blepharophimosis-intellectual disability syndrome SBBYS type
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
BLEPHAROSPASM BENIGN ESSENTIAL SUSCEPTIBILITY TO
Blomstrand lethal chondrodysplasia
BLOOD GROUP ABO SYSTEM
BLOOD GROUP CHIDO/RODGERS SYSTEM
BLOOD GROUP COLTON SYSTEM
BLOOD GROUP CROMER SYSTEM
Blood group dombrock system
BLOOD GROUP DUFFY SYSTEM
Blood group gerbich system
BLOOD GROUP GLOBOSIDE SYSTEM
BLOOD GROUP I SYSTEM
BLOOD GROUP INDIAN SYSTEM
BLOOD GROUP JOHN MILTON HAGEN SYSTEM
BLOOD GROUP JUNIOR SYSTEM
BLOOD GROUP LANGEREIS SYSTEM
BLOOD GROUP LEWIS SYSTEM
BLOOD GROUP MN
BLOOD GROUP P1PK SYSTEM P(1) PHENOTYPE INCLUDED
BLOOD GROUP Ss
BLOOD GROUP SYSTEM LANDSTEINER-WIENER
BLOOD GROUP VEL SYSTEM
BLOOD GROUP--DIEGO SYSTEM
BLOOD GROUP--FROESE
BLOOD GROUP--KELL SYSTEM
BLOOD GROUP--KIDD SYSTEM
BLOOD GROUP--LUTHERAN INHIBITOR
BLOOD GROUP--LUTHERAN SYSTEM
BLOOD GROUP--OK
BLOOD GROUP--SCIANNA SYSTEM
BLOOD GROUP--SWANN SYSTEM
BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WRIGHT ANTIGEN
Bloom syndrome
Bloom Syndrome like Disorder
BLUE CONE MONOCHROMACY
Blue cone monochromatism
Blue rubber bleb nevus
BMP4-associated malformations
BNAR syndrome
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
BOERJESON-FORSSMAN-LEHMANN SYNDROME
Bohring-Opitz syndrome
BOMBAY PHENOTYPEPARA-BOMBAY PHENOTYPE INCLUDED
Bone fragility with contractures arterial rupture and deafness
BONE MARROW FAILURE SYNDROME 1
Bone marrow failure syndrome 2
BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 6
Bone mineral density quantitative trait locus 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12
Bone mineral density quantitative trait locus 15
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
BOOMERANG DYSPLASIA
BOR syndrome
BORJESON-FORSSMAN-LEHMANN SYNDROME
Bosch-Boonstra optic atrophy syndrome
Bosch-boonstra-schaaf optic atrophy syndrome
BOSLEY-SALIH-ALORAINY SYNDROME
BOSMA ARHINIA MICROPHTHALMIA SYNDROME
BOTHNIA RETINAL DYSTROPHY
Boucher Neuhauser syndrome
BOWEN-CONRADI SYNDROME
BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAY
Brachydactyly type A1
BRACHYDACTYLY TYPE A1 C
BRACHYDACTYLY TYPE A1 D
Brachydactyly type A2
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
BRACHYDACTYLY TYPE D
BRACHYDACTYLY TYPE E
BRACHYDACTYLY TYPE E1
BRACHYDACTYLY TYPE E2
Brachydactyly-arterial hypertension syndrome
Brachydactyly-elbow wrist dysplasia syndrome
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
BRACHYDACTYLY-SYNDACTYLY SYNDROME
Brachydactyly-syndactyly Zhao type
BRACHYOLMIA TYPE 3
BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
Brachyolmia-amelogenesis imperfecta syndrome
Brachytelephalangic chondrodysplasia punctata
Bradyopsia
BRAIN ABNORMALITIES NEURODEGENERATION AND DYSOSTEOSCLEROSIS
Brain atrophy Dandy Walker and Contractures
Brain calcification Rajab type
Brain demyelination due to methionine adenosyltransferase deficiency
Brain dopamine-serotonin vesicular transport disease
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
Brain malformations-musculoskeletal abnormalities-facial disability syndrome ...
BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
BRAIN SMALL VESSEL DISEASE 2
BRAIN SMALL VESSEL DISEASE 3
Brain-lung-thyroid syndrome
Branched-chain keto acid dehydrogenase kinase deficiency
BRANCHIOOCULOFACIAL SYNDROME
Branchiootic syndrome
BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 3
BRANCHIOOTIC SYNDROME TYPE 3
BRANCHIOOTORENAL SYNDROME 1
BRANCHIOOTORENAL SYNDROME 2
BRANCHIOOTORENAL SYNDROME TYPE 1
branchiootorenal syndrome type 2
Branchioskeletogenital syndrome
Breast Cancer
BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 1
BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 2
BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 3
BREAST-OVARIAN CANCER FAMILIAL SUSCEPTIBILITY TO 4
BREASTS AND/OR NIPPLES APLASIA OR HYPOPLASIA OF 2
BRESEK syndrome
Brittle cornea syndrome
BRITTLE CORNEA SYNDROME 1
BRITTLE CORNEA SYNDROME 2
BRODY MYOPATHY
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
BROOKE-SPIEGLER SYNDROME
Brown-Vialetto-Van laere syndrome
BROWN-VIALETTO-VAN LAERE SYNDROME 1
BROWN-VIALETTO-VAN LAERE SYNDROME 2
BRPF1 associated syndromic intellectual disability with ptosis
Bruck syndrome
Bruck syndrome 1
BRUCK SYNDROME 2
Bruck syndrome type 2
Brugada syndrome
BRUGADA SYNDROME 1
BRUGADA SYNDROME 2
BRUGADA SYNDROME 3
BRUGADA SYNDROME 4
BRUGADA SYNDROME 5
BRUGADA SYNDROME 6
BRUGADA SYNDROME 7
BRUGADA SYNDROME 8
BRUGADA SYNDROME 9
BRUNNER SYNDROME
BUDD-CHIARI SYNDROME
Bullous diffuse cutaneous mastocytosis
Bullous pemphigoid
BURKITT LYMPHOMA
BURN-MCKEOWN SYNDROME
BURULI ULCER SUSCEPTIBILITY TO
Buschke-Ollendorff syndrome
Butterfly-shaped pigment dystrophy
BUTYRYLCHOLINESTERASE DEFICIENCY
BVES-related limb-girdle muscular dystrophy
C Syndrome
C1 inhibitor deficiency
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
C1q DEFICIENCY
C3 glomerulonephritis
C3HEX ABILITY TO SMELL
CACNA1G-related developmental disorder monoallelic
CAD-CDG
CADDS
CAFFEY DISEASE
CALCIFICATION OF JOINTS AND ARTERIES
Calpain-3-related limb-girdle muscular dystrophy R1
CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY
CAMOS syndrome
CAMPOMELIC DYSPLASIA
CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
CAMPTOSYNPOLYDACTYLY COMPLEX
CAMURATI-ENGELMANN DISEASE
CANAVAN DISEASE
CANCER ALOPECIA PIGMENT DYSCRASIA ONYCHODYSTROPHY AND KERATODERMA
CANDIDIASIS FAMILIAL 2
CANDIDIASIS FAMILIAL 4
CANDIDIASIS FAMILIAL 6
CANDIDIASIS FAMILIAL 8
CANDIDIASIS FAMILIAL 9
CANTU SYNDROME
Cantu syndrome HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Cap myopathy
CAPICUA DROSOPHILA HOMOLOG OF
Capillary malformation of the lower lip lymphatic malformation of face and neck ...
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
Capillary malformations congenital
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY HYPERAMMONEMIA DUE TO
Carbamoyl-phosphate synthetase 1 deficiency
CARBONIC ANHYDRASE VA DEFICIENCY HYPERAMMONEMIA DUE TO
CARBOXYPEPTIDASE N DEFICIENCY
Carcinoid syndrome
Cardiac arrhythmia ankyrin B-related
CARDIAC CONDUCTION DEFECT SUDDEN CARDIAC DEATH INCLUDED
Cardiac conduction disease with or without dilated cardiomyopathy
CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CARDIAC VALVULAR DEFECT DEVELOPMENTAL
Cardiac valvular dysplasia X-linked
CARDIAC-UROGENITAL SYNDROME
Cardiac-valvular Ehlers-Danlos syndrome
CARDIOFACIOCUTANEOUS SYNDROME
CARDIOFACIOCUTANEOUS SYNDROME 1
CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOMYOPATHY DILATED 1A
CARDIOMYOPATHY DILATED 1AA WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
CARDIOMYOPATHY DILATED 1BB
CARDIOMYOPATHY DILATED 1C WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
CARDIOMYOPATHY DILATED 1CC
CARDIOMYOPATHY DILATED 1D
CARDIOMYOPATHY DILATED 1DD
CARDIOMYOPATHY DILATED 1E
CARDIOMYOPATHY DILATED 1EE
CARDIOMYOPATHY DILATED 1FF
CARDIOMYOPATHY DILATED 1G
CARDIOMYOPATHY DILATED 1GG
CARDIOMYOPATHY DILATED 1HH
CARDIOMYOPATHY DILATED 1I
CARDIOMYOPATHY DILATED 1II
CARDIOMYOPATHY DILATED 1J
CARDIOMYOPATHY DILATED 1JJ
CARDIOMYOPATHY DILATED 1KK
CARDIOMYOPATHY DILATED 1L
CARDIOMYOPATHY DILATED 1M
Cardiomyopathy dilated 1nn
CARDIOMYOPATHY DILATED 1O
CARDIOMYOPATHY DILATED 1P
CARDIOMYOPATHY DILATED 1R
CARDIOMYOPATHY DILATED 1S
Cardiomyopathy dilated 1u
CARDIOMYOPATHY DILATED 1V
CARDIOMYOPATHY DILATED 1W
CARDIOMYOPATHY DILATED 1X
CARDIOMYOPATHY DILATED 1Y
CARDIOMYOPATHY DILATED 1Z
CARDIOMYOPATHY DILATED 2A
Cardiomyopathy dilated 2b
CARDIOMYOPATHY DILATED 2C
CARDIOMYOPATHY DILATED 3B
CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM
CARDIOMYOPATHY DILATED WITH WOOLLY HAIR AND KERATODERMA
Cardiomyopathy dilated with woolly hair keratoderma and tooth agenesis
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 1
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 10
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 11
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 12
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 13
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 14
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 15
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 16
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 17
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 18
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 2
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 20
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 25
Cardiomyopathy familial hypertrophic 26
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 27
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 3
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 4
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 6
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 7
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 8
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC 9
CARDIOMYOPATHY FAMILIAL RESTRICTIVE 1
CARDIOMYOPATHY FAMILIAL RESTRICTIVE 3
Cardiomyopathy-hypotonia-lactic acidosis syndrome
CARDIOSPONDYLOCARPOFACIAL SYNDROME
CAREY-FINEMAN-ZITER SYNDROME
Carney complex
Carney complex type 1
CARNEY COMPLEX VARIANT
Carney complex-trismus-pseudocamptodactyly syndrome
Carney-Stratakis syndrome
CARNITINE DEFICIENCY SYSTEMIC PRIMARY
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency myopathic form
Carnitine palmitoyl transferase II deficiency neonatal form
Carnitine palmitoyl transferase II deficiency severe infantile form
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY MYOPATHIC STRESS-INDUCED
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Caroli disease
CAROTID INTIMAL MEDIAL THICKNESS 1
CARPENTER SYNDROME
CARPENTER SYNDROME 1
CARPENTER SYNDROME 2
Carpenter-Waziri syndrome
CARTILAGE-HAIR HYPOPLASIA
Carvajal syndrome
CASPASE 8 DEFICIENCY
CATARACT 1 MULTIPLE TYPES
CATARACT 10 MULTIPLE TYPES
CATARACT 11 MULTIPLE TYPES
CATARACT 12 MULTIPLE TYPES
CATARACT 13 WITH ADULT i PHENOTYPE
CATARACT 14 MULTIPLE TYPES
CATARACT 15 MULTIPLE TYPES
CATARACT 16 MULTIPLE TYPES
CATARACT 17 MULTIPLE TYPES
CATARACT 17 MULTIPLE TYPES MONOALLELIC
CATARACT 18
CATARACT 19 MULTIPLE TYPES
CATARACT 2 MULTIPLE TYPES
CATARACT 20 MULTIPLE TYPES
Cataract 21 multiple types
CATARACT 22 MULTIPLE TYPES
CATARACT 23 MULTIPLE TYPES
CATARACT 3 MULTIPLE TYPES
CATARACT 30 MULTIPLE TYPES
CATARACT 31 MULTIPLE TYPES
CATARACT 33 MULTIPLE TYPES
CATARACT 34 MULTIPLE TYPES
CATARACT 36
CATARACT 38
Cataract 39 multiple types
CATARACT 4 MULTIPLE TYPES
CATARACT 40
Cataract 41
CATARACT 42
CATARACT 43
Cataract 44
CATARACT 45
CATARACT 46 JUVENILE-ONSET WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY
CATARACT 47
CATARACT 48
Cataract 5 multiple types
Cataract 6 multiple types
CATARACT 9 MULTIPLE TYPES
CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
CATARACT AUTOSOMAL RECESSIVE CONGENITAL 1
Cataract autosomal recessive congenital 2
CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4
CATARACT CONGENITAL CERULEAN TYPE 2
CATARACT CONGENITAL NUCLEAR AUTOSOMAL RECESSIVE 2
CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
CATARACT COPPOCK-LIKE
CATARACT NUCLEAR
CATARACT POSTERIOR POLAR TYPE 2
CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Cataract-glaucoma syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing ...
Cataract-intellectual disability-hypogonadism syndrome
Cataract-microcornea syndrome
Cataracts growth hormone deficiency sensory neuropathy sensorineural hearing ...
CATECHOL-O-METHYLTRANSFERASE
Catecholaminergic polymorphic ventricular tachycardia
Catel Manzke syndrome
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
CATIFA SYNDROME
caudal duplication anomaly
Caudal regression sequence
CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
CAVITARY OPTIC DISC ANOMALIES
CCDC115-CDG
CCDC32-associated neurodevelopmental syndrome
CD8 DEFICIENCY FAMILIAL
CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
CDC42-related Neurodevelopmental Disorder
CDC42BPB-related Neurodevelopmental Disorder
CDK19-associated Intellectual Disability and Epileptic Encephalopathy
CDKL5-related epileptic encephalopathy
CEBALID SYNDROME
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction ...
CEDNIK syndrome
CELF2-related neurodevelopmental disorder
CELIAC DISEASE SUSCEPTIBILITY TO 3
CELIAC DISEASE SUSCEPTIBILITY TO 4
CENANI-LENZ SYNDACTYLY SYNDROME
Cenani-Lenz syndrome
CENPJ-related developmental disorder
Central areolar choroidal dystrophy
Central core disease
CENTRAL CORE DISEASE OF MUSCLE
central hypothyroidism and testicular enlargement
CENTRAL HYPOVENTILATION SYNDROME CONGENITAL
Central hypoventilation syndrome congenital with or without Hirschsprung disease
Centronuclear Myopathy 2
CENTRONUCLEAR MYOPATHY AUTOSOMAL MODIFIER OF
Centronuclear myopathy with dilated cardiomyopathy
CEP152-related Developmental Disorder
CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND SENSORINEURAL HEARING ...
CEREBELLAR ATAXIA CAYMAN TYPE
CEREBELLAR ATAXIA DEAFNESS AND NARCOLEPSY AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME 1
CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME 2
Cerebellar ataxia mental retardation and dysequilibrium syndrome 3
Cerebellar ataxia mental retardation and dysequilibrium syndrome 4
CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Cerebellar ataxia neuropathy and vestibular areflexia syndrome
CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATION
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss ...
Cerebellar ataxia-hypogonadism syndrome
CEREBELLAR ATROPHY DEVELOPMENTAL DELAY AND SEIZURES
CEREBELLAR ATROPHY VISUAL IMPAIRMENT AND PSYCHOMOTOR RETARDATION
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
Cerebellar Atrophy with Spinal Motor Neuronopathy
Cerebellar dysplasia with cysts with or without retinal dystrophy
CEREBELLAR HYPOPLASIA/ATROPHY EPILEPSY AND GLOBAL DEVELOPMENTAL DELAY
CEREBELLAR OCULAR CRANIOFACIAL AND GENITAL SYNDROME
cerebellar-facial-dental syndrome
Cerebello-Oculo-Facio-Genital syndrome
CEREBELLOFACIODENTAL SYNDROME
CEREBRAL AMYLOID ANGIOPATHY APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY CST3-RELATED
CEREBRAL AMYLOID ANGIOPATHY ITM2B-RELATED 1
CEREBRAL AMYLOID ANGIOPATHY ITM2B-RELATED 2
CEREBRAL ARTERIOPATHY AUTOSOMAL DOMINANT WITH SUBCORTICAL INFARCTS AND TYPE 1 ...
Cerebral arteriopathy autosomal dominant with subcortical infarcts and type 2 ...
CEREBRAL ARTERIOPATHY AUTOSOMAL RECESSIVE WITH SUBCORTICAL INFARCTS AND ...
Cerebral autosomal dominant arteriopathy-subcortical ...
Cerebral autosomal recessive arteriopathy-subcortical ...
CEREBRAL CAVERNOUS MALFORMATIONS
CEREBRAL CAVERNOUS MALFORMATIONS 2
CEREBRAL CAVERNOUS MALFORMATIONS 3
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3
CEREBRAL CREATINE DEFICIENCY SYNDROME 1
CEREBRAL CREATINE DEFICIENCY SYNDROME 2
CEREBRAL CREATINE DEFICIENCY SYNDROME 3
Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome
CEREBRAL PALSY SPASTIC QUADRIPLEGIC 1
Cerebral palsy spastic quadriplegic 2
Cerebral palsy spastic quadriplegic 3
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3
Cerebral palsy spastic quadriplegic type 4
cerebral palsy spastic quadriplegic type 5
Cerebral palsy spastic quadriplegic type 6
Cerebral sinovenous thrombosis
Cerebro-costo-mandibular syndrome
Cerebro-facio-articular syndrome
Cerebro-facio-thoracic dysplasia
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
CEREBROOCULOFACIOSKELETAL SYNDROME 1
CEREBROOCULOFACIOSKELETAL SYNDROME 2
CEREBROOCULOFACIOSKELETAL SYNDROME 3
CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
CEREBROTENDINOUS XANTHOMATOSIS
Cernunnos-XLF deficiency
CEROID LIPOFUSCINOSIS NEURONAL 1
CEROID LIPOFUSCINOSIS NEURONAL 10
CEROID LIPOFUSCINOSIS NEURONAL 11
CEROID LIPOFUSCINOSIS NEURONAL 13
CEROID LIPOFUSCINOSIS NEURONAL 2
CEROID LIPOFUSCINOSIS NEURONAL 3
CEROID LIPOFUSCINOSIS NEURONAL 4A AUTOSOMAL RECESSIVE
CEROID LIPOFUSCINOSIS NEURONAL 4B AUTOSOMAL DOMINANT
CEROID LIPOFUSCINOSIS NEURONAL 5
CEROID LIPOFUSCINOSIS NEURONAL 6
CEROID LIPOFUSCINOSIS NEURONAL 7
CEROID LIPOFUSCINOSIS NEURONAL 8
CEROID LIPOFUSCINOSIS NEURONAL 8 NORTHERN EPILEPSY VARIANT
Ceroid lipofuscinosis neuronal Kufs type adult onset
Cerulean cataract
Cervical Cancer
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
CFC1-Related Conotruncal Heart Malformations
CFHR5 DEFICIENCY
CHANARIN-DORFMAN SYNDROME
CHAND SYNDROME
Channelopathy-associated congenital insensitivity to pain
CHAR SYNDROME
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
CHARCOT-MARIE-TOOTH DISEASE AXONAL AUTOSOMAL DOMINANT TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE AXONAL AUTOSOMAL RECESSIVE TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2A1
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B1
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2B2
Charcot-Marie-Tooth disease axonal type 2CC
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2D
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2DD
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2E
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2EE
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2I
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2J
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2L
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2N
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Q
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2R
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2S
Charcot-Marie-Tooth disease axonal type 2t
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2W
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2X
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Y
CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Z
Charcot-Marie-Tooth disease axonal with vocal cord paresis autosomal recessive
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1A
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1B
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1C
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1D
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1F
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 1G
CHARCOT-MARIE-TOOTH DISEASE DEMYELINATING TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE C
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE D
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE E
Charcot-Marie-Tooth disease dominant intermediate F
CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE A
CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE C
Charcot-Marie-Tooth disease recessive intermediate d
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2B5
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2S
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 4A
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
CHARCOT-MARIE-TOOTH DISEASE TYPE 4K
CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 1
Charcot-Marie-Tooth disease X-linked dominant 6
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 4 WITH OR WITHOUTCEREBELLAR ...
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 5
CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
CHARGE SYNDROME
CHD1-related neurodevelopment disorder
CHECKPOINT KINASE 2
Chediak-Higashi syndrome
CHEMOKINE CC MOTIF LIGAND 2
CHERUBISM
CHILBLAIN LUPUS 1
CHILBLAIN LUPUS 2
CHILD SYNDROME
Childhood absence epilepsy
childhood absence epilepsy type 5
Childhood apraxia of speech
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood overgrowth
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset benign chorea with striatal involvement
Childhood-Onset Chorea with Bilateral Striatal Lesions
Childhood-Onset Dystonia and Optic Atrophy
Childhood-onset hypogammaglobulinemia
Childhood-onset hypophosphatasia
Childhood-onset motor and cognitive regression syndrome with extrapyramidal ...
Childhood-onset nemaline myopathy
Childhood-Onset Neurodegeneration
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy ...
Childhood-Onset Slowly Progressive Nemaline Myopathy
Childhood-onset spasticity with hyperglycinemia
CHIME syndrome
CHITAYAT SYNDROME
Chitayat syndrome: hyperphalangism characteristic facies hallux valgus and ...
CHITOTRIOSIDASE DEFICIENCY
Choanal atresia and lymphedema
Cholangiocarcinoma
Cholestasis benign recurrent intrahepatic 1
CHOLESTASIS BENIGN RECURRENT INTRAHEPATIC 2
CHOLESTASIS INTRAHEPATIC OF PREGNANCY 1
Cholestasis intrahepatic of pregnancy 3
CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 1
CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 2
CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 3
CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 4
CHOLESTASIS PROGRESSIVE FAMILIAL INTRAHEPATIC 5
Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia
Cholesterol-ester transfer protein deficiency
Cholesteryl ester storage disease
CHONDROCALCINOSIS 2
Chondrodysplasia Blomstrand type
CHONDRODYSPLASIA GREBE TYPE
Chondrodysplasia Punctata 1 X-Linked
Chondrodysplasia punctata 1 X-linked recessive
Chondrodysplasia Punctata 2 X-Linked
CHONDRODYSPLASIA PUNCTATA 2 X-LINKED DOMINANT
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS GPAPP TYPE
Chondrodysplasia with joint dislocations GRAPP type
Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
Chondrodysplasia with platyspondyly distinctive brachydactyly hydrocephaly and ...
Chondrodysplasia-disorder of sex development syndrome
Chondromyxoid fibroma
CHONDROSARCOMA
CHONDROSARCOMA EXTRASKELETAL MYXOID
CHOPS SYNDROME
Chordoma
CHOREA BENIGN HEREDITARY
Chorea childhood-onset with psychomotor retardation
CHOREOACANTHOCYTOSIS
CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY ...
CHOREOATHETOSIS HYPOTHYROIDISM AND NEONATAL RESPIRATORY DISTRESS
Choroid plexus carcinoma
CHOROIDAL DYSTROPHY CENTRAL AREOLAR 1
CHOROIDAL DYSTROPHY CENTRAL AREOLAR 2
CHOROIDEREMIA
Christianson syndrome
CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY AUTOSOMAL DOMINANT
CHRNA3-related congenital anomalies of the kidney and urinary tract
Chrnb2-Related nocturnal frontal lobe epilepsy autosomal dominant
Chromophobe renal cell carcinoma
Chromosome 11p15.5-Related Russell-Silver Syndrome
CHROMOSOME 15q13.3 DELETION SYNDROME
Chromosome 17q21.31 microdeletion syndrome
CHROMOSOME 1q21.1 DELETION SYNDROME 1.35-MB
CHROMOSOME 2p16.3 DELETION SYNDROMESCHIZOPHRENIA 17 INCLUDED
CHROMOSOME 2q37 DELETION SYNDROME
CHROMOSOME 5q DELETION SYNDROME
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
Chromosome Xq28 duplication syndrome
CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA
Chronic atrial and intestinal dysrhythmia syndrome
Chronic beryllium disease
Chronic enteropathy associated with SLCO2A1 gene
Chronic eosinophilic leukemia
Chronic granulomatous disease
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Chronic lymphoproliferative disorder of natural killer cells
Chronic mast cell leukemia
Chronic mucocutaneous candidiasis
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic myeloproliferative disease unclassifiable
Chronic neutrophilic leukemia
Chronic respiratory distress with surfactant metabolism deficiency
CHST3-related skeletal dysplasia
Chudley-Lowry-Hoar syndrome
CHUDLEY-MCCULLOUGH SYNDROME
CHUNG-JANSEN SYNDROME
Chuvash erythrocytosis
CHYLOMICRON RETENTION DISEASE
CIDEC-related familial partial lipodystrophy
CILIARY DYSKINESIA PRIMARY 1
CILIARY DYSKINESIA PRIMARY 10
CILIARY DYSKINESIA PRIMARY 11
CILIARY DYSKINESIA PRIMARY 12
CILIARY DYSKINESIA PRIMARY 13
Ciliary dyskinesia primary 14
Ciliary dyskinesia primary 15
CILIARY DYSKINESIA PRIMARY 16
CILIARY DYSKINESIA PRIMARY 17
CILIARY DYSKINESIA PRIMARY 18
CILIARY DYSKINESIA PRIMARY 19
CILIARY DYSKINESIA PRIMARY 2
CILIARY DYSKINESIA PRIMARY 20
CILIARY DYSKINESIA PRIMARY 21
CILIARY DYSKINESIA PRIMARY 22
CILIARY DYSKINESIA PRIMARY 23
CILIARY DYSKINESIA PRIMARY 24
CILIARY DYSKINESIA PRIMARY 25
Ciliary dyskinesia primary 26
CILIARY DYSKINESIA PRIMARY 27
Ciliary dyskinesia primary 28
CILIARY DYSKINESIA PRIMARY 29
CILIARY DYSKINESIA PRIMARY 3
Ciliary dyskinesia primary 30
CILIARY DYSKINESIA PRIMARY 32
Ciliary dyskinesia primary 33
CILIARY DYSKINESIA PRIMARY 34
CILIARY DYSKINESIA PRIMARY 35
CILIARY DYSKINESIA PRIMARY 36 X-LINKED
CILIARY DYSKINESIA PRIMARY 37
CILIARY DYSKINESIA PRIMARY 38
CILIARY DYSKINESIA PRIMARY 39
CILIARY DYSKINESIA PRIMARY 40
CILIARY DYSKINESIA PRIMARY 41
CILIARY DYSKINESIA PRIMARY 42
CILIARY DYSKINESIA PRIMARY 43
CILIARY DYSKINESIA PRIMARY 44
CILIARY DYSKINESIA PRIMARY 45
CILIARY DYSKINESIA PRIMARY 5
CILIARY DYSKINESIA PRIMARY 6
CILIARY DYSKINESIA PRIMARY 7
CILIARY DYSKINESIA PRIMARY 9
Ciliopathy-related syndromic intellectual disability
CIMDAG Syndrome biallelic
CIMDAG Syndrome monoallelic
CINCA SYNDROME
Circumferential Skin Creases Kunze Type
CIRRHOSIS FAMILIAL
CIRRHOSIS FAMILIALCIRRHOSIS FAMILIAL WITH PULMONARY HYPERTENSION INCLUDED
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
CITRULLINEMIA CLASSIC
Citrullinemia Type I
Citrullinemia type II
CITRULLINEMIA TYPE II ADULT-ONSET
CITRULLINEMIA TYPE II NEONATAL-ONSET
CK SYNDROME
Clark-Baraitser syndrome
Class I glucose-6-phosphate dehydrogenase deficiency
Classic Bartter syndrome
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency salt ...
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency simple ...
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Classic galactosemia
Classic glucose transporter type 1 deficiency syndrome
Classic hairy cell leukemia
Classic Hodgkin lymphoma nodular sclerosis type
Classic homocystinuria
Classic maple syrup urine disease
Classic multiminicore myopathy
Classic mycosis fungoides
Classic pantothenate kinase associated neurodegeneration
Classic phenylketonuria
Classic progressive supranuclear palsy syndrome
Classical Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 1
Classical-like Ehlers-Danlos syndrome type 2
CLCN4-related X-linked intellectual disability syndrome
CLCN6-related Developmental Disorder
CLCN7-Related Osteopetrosis
Clear cell papillary renal cell carcinoma
Clear cell renal carcinoma
Clear cell sarcoma of kidney
Cleft hard palate
Cleft Lip +/- Cleft Palate
Cleft lip and alveolus
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing ...
Cleft lip/palate
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
CLEFT PALATE CARDIAC DEFECTS AND MENTAL RETARDATION
CLEFT PALATE PROLIFERATIVE RETINOPATHY AND DEVELOPMENTAL DELAY
Cleft palate psychomotor retardation and distinctive facial features
Cleft palate with or without ankyloglossia X-linked
Cleft palate X-linked
Cleft velum
CLEIDOCRANIAL DYSPLASIA
CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA ABSENT THUMBS AND DISTAL APHALANGIA ...
CLN1 disease
CLN10 disease
CLN11 disease
CLN13 disease
CLN2 disease
CLN3 disease
CLN4A disease
CLN4B disease
CLN5 disease
CLN6 disease
CLN7 disease
CLN8 disease
CLOUSTON SYNDROME
CLOVES syndrome
CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH VASCULAR MALFORMATIONS AND EPIDERMAL ...
Clubbing with skeletal dysplasia inc acroosteolysis
CLUBFOOT CONGENITAL WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR POLYDACTYLY ...
CNNM2-related neurodevelopmental disorder with hypomagnesemia
CNOT1-related neurodevelopmental disorder
CNOT3 syndrome
COACH SYNDROM
COACH SYNDROME 1
COACH SYNDROME 2
COACH SYNDROME 3
COASY protein-associated neurodegeneration
Coats disease
Coats Plus
Coats plus syndrome
Cobalamin Disorder
Cobblestone brain malformation without muscular or ocular abnormalities
Cobblestone Lissencephaly
Cobblestone lissencephaly without muscular or ocular involvement
Cockayne syndrome A
COCKAYNE SYNDROME B
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Cockayne syndrome type A
Cocoon syndrome
CODAS syndrome
Coenzyme Q10 deficiency
COENZYME Q10 DEFICIENCY PRIMARY 1
COENZYME Q10 DEFICIENCY PRIMARY 2
COENZYME Q10 DEFICIENCY PRIMARY 3
COENZYME Q10 DEFICIENCY PRIMARY 4
COENZYME Q10 DEFICIENCY PRIMARY 5
COENZYME Q10 DEFICIENCY PRIMARY 6
COENZYME Q10 DEFICIENCY PRIMARY 7
Coenzyme Q10 deficiency primary 8
COENZYME Q10 DEFICIENCY PRIMARY 9
Coffin Siris
Coffin Siris like disorder
COFFIN SIRIS SYNDROME
COFFIN-LOWRY SYNDROME
Coffin-Lowry Syndrome 2 RPS6KA3 XLD
Coffin-Lowry Syndrome 2 RPS6KA3 XLR
COFFIN-SIRIS SYNDROME
COFFIN-SIRIS SYNDROME 1
COFFIN-SIRIS SYNDROME 10
COFFIN-SIRIS SYNDROME 11
COFFIN-SIRIS SYNDROME 2
COFFIN-SIRIS SYNDROME 3
COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 8
COFFIN-SIRIS SYNDROME 9
COFS syndrome
COG1-CDG
COG2-CDG
COG4-CDG
COG5-CDG
COG6-CGD
COG7-CDG
COG8-CDG
Cognitive impairment with or without cerebellar ataxia
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary dysplasia ...
Cohen syndrome
Cohen-Gibson syndrome
Cohesinopathy
COL1A1-RELATED OSTEOGENESIS IMPERFECTA
COL4A1-related familial vascular leukoencephalopathy
COL6A1 associated myopathy
COLCHICINE RESISTANCE
Cold-induced sweating syndrome
Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with ...
Cole disease
COLE-CARPENTER SYNDROME
COLE-CARPENTER SYNDROME 1
COLE-CARPENTER SYNDROME 2
COLLAGEN TYPE II ALPHA-1
COLOBOMA CONGENITAL HEART DISEASE ICHTHYOSIFORM DERMATOSIS MENTALRETARDATION ...
COLOBOMA OCULAR AUTOSOMAL DOMINANT
COLOBOMA OCULAR AUTOSOMAL RECESSIVE
Coloboma ocular with or without hearing impairment cleft lip/palate and/or ...
Coloboma of choroid and retina
Coloboma of eye lens
Coloboma of eyelid
Coloboma of iris
Coloboma of macula
Coloboma of optic disc
COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS BILATERAL CONGENITAL INCLUDED
Coloboma osteopetrosis microphthalmia macrocephaly albinism and deafness
Colobomatous macrophthalmia with microcornea syndrome
Colobomatous macrophthalmia-microcornea syndrome
Colobomatous microphthalmia
Colobomatous microphthalmia microcephaly intellectual disability and short ...
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
COLORBLINDNESS PARTIAL DEUTAN SERIES
COLORBLINDNESS PARTIAL PROTAN SERIES
Colorectal Cancer
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 2
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 4
Colorectal cancer hereditary nonpolyposis type 5
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 6
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 7
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 8
COLORECTAL CANCER SUSCEPTIBILITY TO 1
COLORECTAL CANCER SUSCEPTIBILITY TO 10
Colorectal cancer susceptibility to 12
COLORECTAL CANCER SUSCEPTIBILITY TO 3
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
Combined deficiency of factor V and factor VIII
Combined immunodeficiency
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT ...
Combined immunodeficiency due to CD27 deficiency
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to IL21R deficiency
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to Moesin deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency with faciooculoskeletal anomalies
Combined immunodeficiency with granulomatosis
COMBINED IMMUNODEFICIENCY X-LINKED
Combined immunodeficiency-enteropathy spectrum
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 29
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 39
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
Combined oxidative phosphorylation deficiency 16
Combined oxidative phosphorylation deficiency 17
Combined oxidative phosphorylation deficiency 18
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
Combined oxidative phosphorylation deficiency 20
Combined oxidative phosphorylation deficiency 21
Combined oxidative phosphorylation deficiency 22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
Combined oxidative phosphorylation deficiency 24
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
Combined oxidative phosphorylation deficiency 28
Combined oxidative phosphorylation deficiency 29
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
Combined oxidative phosphorylation deficiency 37
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
Combined oxidative phosphorylation deficiency 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
Combined pituitary hormone deficiencies genetic forms
COMBINED SAPOSIN DEFICIENCY
Common variable immunodeficiency
COMPLEMENT COMPONENT 2 DEFICIENCY
Complement component 3 deficiency
COMPLEMENT COMPONENT 3 DEFICIENCY AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 4 PARTIAL DEFICIENCY OF
COMPLEMENT COMPONENT 4A DEFICIENCY
COMPLEMENT COMPONENT 4B DEFICIENCY
COMPLEMENT COMPONENT 5 DEFICIENCY
COMPLEMENT COMPONENT 6 DEFICIENCY
Complement component 7 deficiency
COMPLEMENT COMPONENT 8 DEFICIENCY TYPE I
COMPLEMENT COMPONENT 8 DEFICIENCY TYPE II
COMPLEMENT COMPONENT 9 DEFICIENCY
COMPLEMENT COMPONENT C1s DEFICIENCY
COMPLEMENT FACTOR B DEFICIENCY
COMPLEMENT FACTOR D DEFICIENCY
COMPLEMENT FACTOR H DEFICIENCY
COMPLEMENT FACTOR I DEFICIENCY
COMPLEMENT HYPERACTIVATION ANGIOPATHIC THROMBOSIS AND PROTEIN-LOSING ENTEROPATHY
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy ...
Complete androgen insensitivity syndrome
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Complete cryptophthalmia
Complete hydatidiform mole
Complex craniosynostosis
Complex early-onset dystonia
Complex Hereditary Spastic Paraplegia
COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
CONE DYSTROPHY 3
CONE DYSTROPHY 4
Cone dystrophy with supernormal rod response
Cone rod dystrophy
CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 11
CONE-ROD DYSTROPHY 12
CONE-ROD DYSTROPHY 13
CONE-ROD DYSTROPHY 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
CONE-ROD DYSTROPHY 19
CONE-ROD DYSTROPHY 2
CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 21
CONE-ROD DYSTROPHY 3
CONE-ROD DYSTROPHY 5
CONE-ROD DYSTROPHY 6
CONE-ROD DYSTROPHY 7
CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY AND HEARING LOSS 1
CONE-ROD DYSTROPHY AND HEARING LOSS 2
Cone-rod dystrophy X-linked 1
CONE-ROD DYSTROPHY X-LINKED 3
CONE-ROD SYNAPTIC DISORDER CONGENITAL NONPROGRESSIVE
CONE-ROD SYNAPTIC DISORDER SYNDROME CONGENITAL NONPROGRESSIVE
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase ...
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital alpha2 antiplasmin deficiency
Congenital alveolar capillary dysplasia
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
CONGENITAL AND JUVENILE CATARACT
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT CAKUT1
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT LOSS ...
CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
Congenital atransferrinemia
Congenital autosomal recessive small-platelet thrombocytopenia
Congenital bilateral absence of vas deferens
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 2
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 4
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital Cataract Corneal Opacity and Developmental Glaucoma
Congenital cataract microcornea with corneal opacity
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental ...
Congenital cataract-severe neonatal hepatopathy-global developmental delay ...
CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY
CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME
CONGENITAL CATARACTS HEARING LOSS AND NEURODEGENERATION
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital Cerebellar Ataxia
Congenital cerebellar ataxia due to RNU12 mutation
Congenital chloride diarrhea
Congenital chronic diarrhea with protein-losing enteropathy
congenital clubfoot
Congenital communicating hydrocephalus
Congenital contractural arachnodactyly
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE HYPOTONIA AND DEVELOPMENTAL DELAY
Congenital cornea plana
Congenital deficiency in alpha-fetoprotein
Congenital diaphragmatic hernia
CONGENITAL DIARRHEAL DISORDERS
CONGENITAL DISORDER OF DEGLYCOSYLATION
Congenital Disorder of Glycosylation
Congenital disorder of glycosylation type 1G
congenital disorder of glycosylation type 1N
Congenital disorder of glycosylation type 1O
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A
Congenital disorder of glycosylation type 2C
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iaa
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ib
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Icc
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ih
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIa
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIe
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIg
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIh
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIi
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIj
Congenital disorder of glycosylation type IIk
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIl
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIm
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIn
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIo
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIp
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIq
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIr
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIt
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ij
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ik
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Il
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im
CONGENITAL DISORDER OF GLYCOSYLATION TYPE In
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iq
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ir
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Is
CONGENITAL DISORDER OF GLYCOSYLATION TYPE It
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iu
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iw
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ix
CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iy
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION
Congenital disorder of glycosylation with defective fucosylation 1
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2
Congenital Disorders of Glycosylation
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type IV
Congenital enteropathy due to enteropeptidase deficiency
Congenital erythropoietic porphyria
Congenital factor II deficiency
Congenital factor V deficiency
Congenital factor VII deficiency
Congenital factor X deficiency
Congenital factor XI deficiency
Congenital factor XII deficiency
Congenital factor XIII deficiency
Congenital fiber-type disproportion myopathy
Congenital fibrosis of extraocular muscles
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital generalized lipodystrophy
CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3
Congenital glaucoma
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Congenital heart defects and skeletal malformations
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS and XX sex reversal
CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES AND INTELLECTUAL DISORDER ...
CONGENITAL HEART DEFECTS HAMARTOMAS OF TONGUE AND POLYSYNDACTYLY
CONGENITAL HEART DEFECTS MULTIPLE TYPES 2
Congenital heart defects multiple types 4
CONGENITAL HEART DEFECTS MULTIPLE TYPES 5
CONGENITAL HEART DEFECTS MULTIPLE TYPES 6
CONGENITAL HEART DEFECTS MULTIPLE TYPES 7
Congenital heart disease
CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
CONGENITAL HEART DISEASE NONSYNDROMIC 2
Congenital Hemangioma
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Congenital hereditary endothelial dystrophy type I
Congenital hereditary endothelial dystrophy type II
Congenital hereditary facial paralysis-variable hearing loss syndrome
Congenital high-molecular-weight kininogen deficiency
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5
CONGENITAL HYPOTONIA EPILEPSY DEVELOPMENTAL DELAY AND DIGITAL ANOMALIES
congenital hypotonia epilepsy developmental delay digit abnormalities
congenital ichthyosis
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
congenital inability to experience pain
Congenital insensitivity to pain with anhidrosis
Congenital insensitivity to pain with severe intellectual disability
Congenital intrauterine infection-like syndrome
Congenital intrinsic factor deficiency
Congenital isolated ACTH deficiency
Congenital lactase deficiency
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
Congenital lethal myopathy Compton-North type
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital lipomatous overgrowth vascular malformations and epidermal nevi
Congenital Lower Urinary Tract Obstruction
Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Congenital megabladder
Congenital membranous nephropathy due to fetomaternal anti-neutral ...
Congenital mesoblastic nephroma
Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy ...
Congenital multicore myopathy with external ophthalmoplegia
Congenital multiple cafe-au-lait macules-increased sister chromatid exchange ...
Congenital Muscular Dystrophy
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy Fukuyama type
Congenital muscular dystrophy Ullrich type
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint ...
Congenital Myasthenic Syndrome Type 19
Congenital Myasthenic Syndrome with Episodic Apnea
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy Paradas type
CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES
Congenital myopathy with excess of thin filaments
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with myasthenic-like onset
Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
Congenital myopathy with reduced type 2 muscle fibers
Congenital nephrotic syndrome Finnish type
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital non-bullous ichthyosiform erythroderma
Congenital non-communicating hydrocephalus
Congenital or early infantile CACH syndrome
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital prekallikrein deficiency
Congenital primary aphakia
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal ...
Congenital ptosis
Congenital reticular ichthyosiform erythroderma
Congenital short bowel syndrome
Congenital sialidosis type 2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic delay syndrome ...
Congenital sodium diarrhea
Congenital stationary night blindness
Congenital Stromal Corneal Dystrophy
Congenital sucrase-isomaltase deficiency
CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Congenital thrombotic thrombocytopenic purpura
Congenital tufting enteropathy
CONGENITAL VARIANT OF RETT SYNDROME
Congenital vascular tumours
Congenital vertebral-cardiac-renal anomalies syndrome
Congenital vertical talus bilateral
Congenital vertical talus unilateral
Congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with cardiac ...
Congenitally uncorrected transposition of the great arteries with coarctation
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Conotruncal heart malformations
Constitutional megaloblastic anemia with severe neurologic disease
Constitutional mismatch repair deficiency syndrome
Continuous spikes and waves during sleep
CONTRACTURAL ARACHNODACTYLY CONGENITAL
CONTRACTURES PTERYGIA AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
CONTRACTURES PTERYGIA AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
CONVULSIONS FAMILIAL INFANTILE WITH PAROXYSMAL CHOREOATHETOSIS
COPROPORPHYRIA HEREDITARY
Coralliform cataract
CORNEA PLANA 2 AUTOSOMAL RECESSIVE
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AVELLINO TYPE
CORNEAL DYSTROPHY CONGENITAL STROMAL
CORNEAL DYSTROPHY EPITHELIAL BASEMENT MEMBRANE
CORNEAL DYSTROPHY FLECK
CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 1
CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 3
Corneal dystrophy fuchs endothelial 4
CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 6
Corneal dystrophy fuchs endothelial 8
CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6
CORNEAL DYSTROPHY GELATINOUS DROP-LIKE
CORNEAL DYSTROPHY GROENOUW TYPE I
CORNEAL DYSTROPHY LATTICE TYPE I
CORNEAL DYSTROPHY LATTICE TYPE IIIA
CORNEAL DYSTROPHY MEESMANN 1
CORNEAL DYSTROPHY MEESMANN 2
CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 1
CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 2
CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 3
CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 4
CORNEAL DYSTROPHY REIS-BUCKLERS TYPE
CORNEAL DYSTROPHY THIEL-BEHNKE TYPE
Corneal dystrophy-perceptive deafness syndrome
Corneal endothelial dystrophy
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal ...
Cornelia de Lange syndrome
CORNELIA DE LANGE SYNDROME 1
CORNELIA DE LANGE SYNDROME 2
CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
CORNELIA DE LANGE SYNDROME 5
Cornelia de Lange Syndrome HDAC8 X-linked dominant
CORNELIA DE LANGE SYNDROME TYPE 1
CORNELIA DE LANGE SYNDROME TYPE 2
CORNELIA DE LANGE SYNDROME TYPE 3
Cornelia de Lange-like syndrome
CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR
Coronal Craniosynostosis
CORONARY ARTERY DISEASE AUTOSOMAL DOMINANT 1
Coronary Artery Disease Autosomal Dominant 2
Coronary Heart Disease Susceptibility To 1
Coronary Heart Disease Susceptibility To 6
CORONARY HEART DISEASE SUSCEPTIBILITY TO 7
CORPUS CALLOSUM AGENESIS OF WITH ABNORMAL GENITALIA
CORPUS CALLOSUM AGENESIS OF WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
CORPUS CALLOSUM AGENESIS OF WITH MENTAL RETARDATION OCULAR COLOBOMA AND ...
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Corpus callosum agenesis-neuronopathy syndrome
CORPUS CALLOSUM PARTIAL AGENESIS OF X-LINKED
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 10
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 3
Cortical dysplasia complex with other brain malformations 4
Cortical dysplasia complex with other brain malformations 5
Cortical dysplasia complex with other brain malformations 6
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 8
CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 9
Cortical dysplasia-focal epilepsy syndrome
CORTICAL MALFORMATIONS OCCIPITAL
CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
CORTISONE REDUCTASE DEFICIENCY 1
Cortisone reductase deficiency 2
COSTELLO SYNDROME
COUMARIN RESISTANCE
COUSIN SYNDROME
Cousin Syndrome; Craniofacial Dysmorphism Hypoplasia of Scapula and Pelvis and ...
COWDEN SYNDROME
COWDEN SYNDROME 1
COWDEN SYNDROME 4
COWDEN SYNDROME 5
COWDEN SYNDROME 6
COWDEN SYNDROME 7
COX15-related Leigh Syndrome
COX16-related Developmental Disorder
Coxopodopatellar syndrome
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Craniodiaphyseal dysplasia
CRANIODIAPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT
Cranioectodermal dysplasia
CRANIOECTODERMAL DYSPLASIA 1
Cranioectodermal dysplasia 2
CRANIOECTODERMAL DYSPLASIA 3
Cranioectodermal dysplasia 4
CRANIOECTODERMAL DYSPLASIA TYPE 3
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
Craniofacial anomalies corpus callosum dysgenesis ptosis and developmental delay
Craniofacial dysmorphism skeletal anomalies and mental retardation syndrome
Craniofacial dysplasia-osteopenia syndrome
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual syndrome ...
Craniofacial Neurological Cardiovascular and Skeletal Features
Craniofacial with neurodevelopment disorders
CRANIOFACIAL-DEAFNESS-HAND SYNDROME
Craniofrontonasal dysplasia
CRANIOFRONTONASAL SYNDROME
CRANIOLENTICULOSUTURAL DYSPLASIA
Craniometaphyseal dysplasia
CRANIOMETAPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE
CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
CRANIOOSTEOARTHROPATHY
Craniopharyngioma
Craniorachischisis
CRANIOSYNOSTOSIS 1
CRANIOSYNOSTOSIS 2
Craniosynostosis 3
CRANIOSYNOSTOSIS 4
Craniosynostosis 5 susceptibility to
CRANIOSYNOSTOSIS 6
Craniosynostosis 7
Craniosynostosis and dental anomalies
Craniosynostosis Boston type
CRANIOSYNOSTOSIS TYPE 2
Craniosynostosis-dental anomalies
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa
CREATINE PHOSPHOKINASE ELEVATED SERUM
Cree leukoencephalopathy
CREUTZFELDT-JAKOB DISEASE
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
CRIGLER-NAJJAR SYNDROME TYPE I
CRIGLER-NAJJAR SYNDROME TYPE II
CRISPONI SYNDROME
Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
CRISPONI/COLD-INDUCED SWEATING SYNDROME 2
Crouzon disease
CROUZON SYNDROME
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Crouzon syndrome-acanthosis nigricans syndrome
CRX-Related Leber Congenital Amaurosis Leber congenital amaurosis 7
CRYOHYDROCYTOSIS
Cryptogenic multifocal ulcerous stenosing enteritis
Cryptophthalmos unilateral or bilateral isolated
Cryptorchidism unilateral or bilateral
CSNK2A1 syndrome
CSNK2B-related developmental disorder monoallelic
CTBP1-related developmental disorder monoallelic
CTCF-related neurodevelopmental disorder
CTNND2-related neurodevelopmental disorder
CUL3-related developmental disorder monoallelic
CULLER-JONES SYNDROME
CURRARINO SYNDROME
Curry-Jones Syndrome
Cushing disease
Cushing syndrome due to macronodular adrenal hyperplasia
Cutaneous mastocytoma
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME FAMILIAL
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
CUTIS LAXA AUTOSOMAL DOMINANT 1
CUTIS LAXA AUTOSOMAL DOMINANT 2
Cutis laxa autosomal dominant 3
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IA
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IB
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IC
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIA
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIB
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIC
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IID
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIIA
CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIIB
Cutis laxa with severe pulmonary gastrointestinal and urinary anomalies
Cutis marmorata telangiectatica congenita
CYANOSIS TRANSIENT NEONATAL
CYCLIC NEUTROPENIA
CYLINDROMATOSIS FAMILIAL
Cystathionine beta-synthase deficiency
CYSTATHIONINURIA
Cystic Fibrosis
Cystic leukoencephalopathy without megalencephaly
CYSTINOSIS ADULT NONNEPHROPATHIC
CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CYSTINOSIS NEPHROPATHIC
CYSTINOSIS NEPHROPATHIC TYPE
CYSTINURIA
Cystinuria type A
Cystinuria type B
CYTOCHROME P450 SUBFAMILY I POLYPEPTIDE 2
CYTOCHROME P450 SUBFAMILY IIA POLYPEPTIDE 6
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
CZECH DYSPLASIA
D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
D-BIFUNCTIONAL PROTEIN DEFICIENCY
D-GLYCERIC ACIDURIA
D-LACTIC ACIDURIA WITH GOUT
Danon disease
DARIER DISEASE
DARIER-WHITE DISEASE
DDOST-CDG
DDX23-related developmental disorder monoallelic
DDX41-related hematologic malignancy predisposition syndrome
De novo thrombotic microangiopathy after kidney transplantation
De Sanctis-Cacchione syndrome
Deafness aminoglycoside-induced
DEAFNESS AND MYOPIA
DEAFNESS AUTOSOMAL DOMINANT 1 WITH OR WITHOUT THROMBOCYTOPENIA
DEAFNESS AUTOSOMAL DOMINANT 10
DEAFNESS AUTOSOMAL DOMINANT 11
DEAFNESS AUTOSOMAL DOMINANT 12
DEAFNESS AUTOSOMAL DOMINANT 13
DEAFNESS AUTOSOMAL DOMINANT 15
DEAFNESS AUTOSOMAL DOMINANT 17
DEAFNESS AUTOSOMAL DOMINANT 20
DEAFNESS AUTOSOMAL DOMINANT 22
DEAFNESS AUTOSOMAL DOMINANT 23
DEAFNESS AUTOSOMAL DOMINANT 25
DEAFNESS AUTOSOMAL DOMINANT 27
DEAFNESS AUTOSOMAL DOMINANT 28
DEAFNESS AUTOSOMAL DOMINANT 2A
DEAFNESS AUTOSOMAL DOMINANT 2B
DEAFNESS AUTOSOMAL DOMINANT 34 WITH OR WITHOUT INFLAMMATION
DEAFNESS AUTOSOMAL DOMINANT 36
DEAFNESS AUTOSOMAL DOMINANT 37
DEAFNESS AUTOSOMAL DOMINANT 39 WITH DENTINOGENESIS IMPERFECTA 1
DEAFNESS AUTOSOMAL DOMINANT 3A
DEAFNESS AUTOSOMAL DOMINANT 3B
DEAFNESS AUTOSOMAL DOMINANT 40
DEAFNESS AUTOSOMAL DOMINANT 41
DEAFNESS AUTOSOMAL DOMINANT 44
DEAFNESS AUTOSOMAL DOMINANT 4A
DEAFNESS AUTOSOMAL DOMINANT 4B
Deafness autosomal dominant 5
Deafness autosomal dominant 50
DEAFNESS AUTOSOMAL DOMINANT 56
DEAFNESS AUTOSOMAL DOMINANT 6
DEAFNESS AUTOSOMAL DOMINANT 64
DEAFNESS AUTOSOMAL DOMINANT 65
DEAFNESS AUTOSOMAL DOMINANT 66
DEAFNESS AUTOSOMAL DOMINANT 67
Deafness autosomal dominant 68
DEAFNESS AUTOSOMAL DOMINANT 69
DEAFNESS AUTOSOMAL DOMINANT 7
DEAFNESS AUTOSOMAL DOMINANT 70
DEAFNESS AUTOSOMAL DOMINANT 71
DEAFNESS AUTOSOMAL DOMINANT 72
DEAFNESS AUTOSOMAL DOMINANT 73
DEAFNESS AUTOSOMAL DOMINANT 74
DEAFNESS AUTOSOMAL DOMINANT 75
DEAFNESS AUTOSOMAL DOMINANT 76
DEAFNESS AUTOSOMAL DOMINANT 77
DEAFNESS AUTOSOMAL DOMINANT 78
DEAFNESS AUTOSOMAL DOMINANT 79
DEAFNESS AUTOSOMAL DOMINANT 9
DEAFNESS AUTOSOMAL DOMINANT TYPE 13
deafness autosomal dominant type 2B
DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1
DEAFNESS AUTOSOMAL RECESSIVE
DEAFNESS AUTOSOMAL RECESSIVE 100
Deafness autosomal recessive 101
Deafness autosomal recessive 102
DEAFNESS AUTOSOMAL RECESSIVE 103
Deafness autosomal recessive 104
DEAFNESS AUTOSOMAL RECESSIVE 106
DEAFNESS AUTOSOMAL RECESSIVE 107
DEAFNESS AUTOSOMAL RECESSIVE 108
DEAFNESS AUTOSOMAL RECESSIVE 109
DEAFNESS AUTOSOMAL RECESSIVE 110
DEAFNESS AUTOSOMAL RECESSIVE 111
DEAFNESS AUTOSOMAL RECESSIVE 112
DEAFNESS AUTOSOMAL RECESSIVE 113
DEAFNESS AUTOSOMAL RECESSIVE 114
DEAFNESS AUTOSOMAL RECESSIVE 115
DEAFNESS AUTOSOMAL RECESSIVE 116
DEAFNESS AUTOSOMAL RECESSIVE 12
DEAFNESS AUTOSOMAL RECESSIVE 15
DEAFNESS AUTOSOMAL RECESSIVE 16
DEAFNESS AUTOSOMAL RECESSIVE 18A
DEAFNESS AUTOSOMAL RECESSIVE 18B
DEAFNESS AUTOSOMAL RECESSIVE 1A
DEAFNESS AUTOSOMAL RECESSIVE 1B
DEAFNESS AUTOSOMAL RECESSIVE 2
DEAFNESS AUTOSOMAL RECESSIVE 21
DEAFNESS AUTOSOMAL RECESSIVE 22
DEAFNESS AUTOSOMAL RECESSIVE 23
Deafness autosomal recessive 24
DEAFNESS AUTOSOMAL RECESSIVE 25
DEAFNESS AUTOSOMAL RECESSIVE 26
DEAFNESS AUTOSOMAL RECESSIVE 26 MODIFIER OF
DEAFNESS AUTOSOMAL RECESSIVE 28
DEAFNESS AUTOSOMAL RECESSIVE 29
DEAFNESS AUTOSOMAL RECESSIVE 3
DEAFNESS AUTOSOMAL RECESSIVE 30
DEAFNESS AUTOSOMAL RECESSIVE 31
DEAFNESS AUTOSOMAL RECESSIVE 32 WITH OR WITHOUT IMMOTILE SPERM
DEAFNESS AUTOSOMAL RECESSIVE 35
DEAFNESS AUTOSOMAL RECESSIVE 36 WITH OR WITHOUT VESTIBULAR INVOLVEMENT
DEAFNESS AUTOSOMAL RECESSIVE 37
DEAFNESS AUTOSOMAL RECESSIVE 39
DEAFNESS AUTOSOMAL RECESSIVE 4 WITH ENLARGED VESTIBULAR AQUEDUCT
Deafness autosomal recessive 42
Deafness autosomal recessive 44
DEAFNESS AUTOSOMAL RECESSIVE 48
DEAFNESS AUTOSOMAL RECESSIVE 49
DEAFNESS AUTOSOMAL RECESSIVE 53
DEAFNESS AUTOSOMAL RECESSIVE 57
DEAFNESS AUTOSOMAL RECESSIVE 59
DEAFNESS AUTOSOMAL RECESSIVE 6
DEAFNESS AUTOSOMAL RECESSIVE 61
DEAFNESS AUTOSOMAL RECESSIVE 63
Deafness autosomal recessive 66
DEAFNESS AUTOSOMAL RECESSIVE 67
Deafness autosomal recessive 68
DEAFNESS AUTOSOMAL RECESSIVE 7
DEAFNESS AUTOSOMAL RECESSIVE 70
DEAFNESS AUTOSOMAL RECESSIVE 74
DEAFNESS AUTOSOMAL RECESSIVE 76
DEAFNESS AUTOSOMAL RECESSIVE 77
Deafness autosomal recessive 79
Deafness autosomal recessive 8
DEAFNESS AUTOSOMAL RECESSIVE 84A
DEAFNESS AUTOSOMAL RECESSIVE 84B
DEAFNESS AUTOSOMAL RECESSIVE 86
DEAFNESS AUTOSOMAL RECESSIVE 88
DEAFNESS AUTOSOMAL RECESSIVE 89
DEAFNESS AUTOSOMAL RECESSIVE 9
Deafness autosomal recessive 91
DEAFNESS AUTOSOMAL RECESSIVE 93
DEAFNESS AUTOSOMAL RECESSIVE 94
DEAFNESS AUTOSOMAL RECESSIVE 97
DEAFNESS AUTOSOMAL RECESSIVE 98
DEAFNESS AUTOSOMAL RECESSIVE 99
deafness autosomal recessive type 12
deafness autosomal recessive type 2
DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
DEAFNESS CONGENITAL HEART DEFECTS AND POSTERIOR EMBRYOTOXON
DEAFNESS CONGENITAL WITH INNER EAR AGENESIS MICROTIA AND MICRODONTIA
DEAFNESS CONGENITAL WITH ONYCHODYSTROPHY AUTOSOMAL DOMINANT
Deafness Dystonia and Central Hypomyelination with Disorganization of the Golgi ...
DEAFNESS DYSTONIA AND CEREBRAL HYPOMYELINATION
Deafness nonsyndromic sensorineural mitochondrial
DEAFNESS ONYCHODYSTROPHY OSTEODYSTROPHY MENTAL RETARDATION AND SEIZURES SYNDROME
Deafness with Labyrinthine Aplasia Microtia and Microdontia
DEAFNESS X-LINKED 1
DEAFNESS X-LINKED 2
DEAFNESS X-LINKED 4
DEAFNESS X-LINKED 5 WITH PERIPHERAL NEUROPATHY
DEAFNESS X-LINKED 6
DEAFNESS X-LINKED 7
DEAFNESS X-LINKED TYPE 1
Deafness Y-linked 2
Deafness-enamel hypoplasia-nail defects syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Dedifferentiated liposarcoma
DEEAH SYNDROME
Defect in Cholesterol Biosynthesis
Defects in Neuronal Migration and Axon Guidance
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Dehydrated hereditary stomatocytosis
Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia edema ...
Dehydrated hereditary stomatocytosis 2
Dejerine-Sottas syndrome
DELAYED SLEEP PHASE DISORDER SUSCEPTIBILITY TO
Deletion 5q35
DELPIRE-MCNEILL SYNDROME
Delta-beta thalassemia
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
DEMENTIA LEWY BODY
DEND syndrome
DENGUE VIRUS SUSCEPTIBILITY TO DENGUE FEVER SUSCEPTIBILITY TO INCLUDED
Dense deposit disease
Dent disease 1
DENT DISEASE 2
Dent disease type 1
Dent disease type 2
DENTAL ANOMALIES AND SHORT STATURE
Dentatorubral pallidoluysian atrophy
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
Dentin dysplasia type I
Dentin dysplasia type I with microdontia and misshapen teeth
DENTIN DYSPLASIA TYPE II
DENTINOGENESIS IMPERFECTA 1
DENTINOGENESIS IMPERFECTA SHIELDS TYPE II
DENTINOGENESIS IMPERFECTA SHIELDS TYPE III
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
DENYS-DRASH SYNDROME
Dermatitis atopic 2
DERMATOFIBROSARCOMA PROTUBERANS
DERMATOPATHIA PIGMENTOSA RETICULARIS
Dermatosparaxis Ehlers-Danlos syndrome
Desanto-shinawi syndrome
DESBUQUOIS DYSPLASIA 1
DESBUQUOIS DYSPLASIA 2
Desbuquois syndrome
Desmin-related myopathy with Mallory body-like inclusions
Desminopathy
DESMOID DISEASE HEREDITARY
Desmoid tumor
Desmoplastic small round cell tumor
Desmoplastic/nodular medulloblastoma
DESMOSTEROLOSIS
Developmental and Epileptic Encephalopathy
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN ...
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and ...
Developmental and expressive language delay
Developmental and infantile epileptic encephalopathy
Developmental and speech delay due to SOX5 deficiency
Developmental and Speech Delay Postnatal Microcephaly and Dysmorphic Features
Developmental delay and distinctive facial features
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
Developmental Delay Congenital Anomalies and Dysmorphic Features
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental Delay Epilepsy Cerebellar Atrophy and Osteopenia
Developmental delay happy demeanor distinctive facial features and congenital ...
Developmental delay hypotonia and autistic features
Developmental delay ID obesity and dysmorphic features
Developmental delay macrocephaly and dysmorphic features
Developmental delay with autism spectrum disorder and gait instability
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
DEVELOPMENTAL DELAY WITH SHORT STATURE DYSMORPHIC FACIAL FEATURESAND SPARSE HAIR
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ...
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Developmental Disorder with Microcephaly and Congenital Arthrogryposis
Developmental Disorders with Diverse Phenotypes
Developmental epileptic encephalopathy
Developmental malformations-deafness-dystonia syndrome
DHRS3 related craniosynostosis
DIABETES INSIPIDUS NEPHROGENIC AUTOSOMAL
Diabetes insipidus nephrogenic X-linked
DIABETES INSIPIDUS NEUROHYPOPHYSEAL
Diabetes Mellitus 6q24-Related Transient Neonatal
DIABETES MELLITUS INSULIN-RESISTANT WITH ACANTHOSIS NIGRICANS
Diabetes Mellitus KCNJ11-Related Transient Neonatal
DIABETES MELLITUS KETOSIS-PRONE
DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
DIABETES MELLITUS PERMANENT NEONATAL 1
DIABETES MELLITUS PERMANENT NEONATAL 2
DIABETES MELLITUS PERMANENT NEONATAL 3
DIABETES MELLITUS PERMANENT NEONATAL 4
Diabetes Mellitus Permanent Neonatal with Cerebellar Agenesis
DIABETES MELLITUS TRANSIENT NEONATAL 1
DIABETES MELLITUS TRANSIENT NEONATAL 2
DIABETES MELLITUS TRANSIENT NEONATAL 3
DIAMOND-BLACKFAN ANEMIA 1
DIAMOND-BLACKFAN ANEMIA 10
DIAMOND-BLACKFAN ANEMIA 11
DIAMOND-BLACKFAN ANEMIA 12
Diamond-Blackfan anemia 13
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
Diamond-Blackfan anemia 16
DIAMOND-BLACKFAN ANEMIA 17
DIAMOND-BLACKFAN ANEMIA 18
DIAMOND-BLACKFAN ANEMIA 19
DIAMOND-BLACKFAN ANEMIA 20
DIAMOND-BLACKFAN ANEMIA 3
DIAMOND-BLACKFAN ANEMIA 4
DIAMOND-BLACKFAN ANEMIA 5
DIAMOND-BLACKFAN ANEMIA 6
DIAMOND-BLACKFAN ANEMIA 7
DIAMOND-BLACKFAN ANEMIA 8
DIAMOND-BLACKFAN ANEMIA 9
Diamond-Blackfan anemia with cleft palate and abnormal thumbs
DIAMOND-BLACKFAN ANEMIA-LIKE
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Diaphanospondylodysostosis
DIAPHRAGMATIC HERNIA 3
Diaphragmatic hernia-short bowel-asplenia syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis-bone malignancy syndrome
DIARRHEA 1 SECRETORY CHLORIDE CONGENITAL
DIARRHEA 10 PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 11 MALABSORPTIVE CONGENITAL
DIARRHEA 2 WITH MICROVILLUS ATROPHY
DIARRHEA 3 SECRETORY SODIUM CONGENITAL WITH OR WITHOUT OTHER CONGENITAL ...
DIARRHEA 4 MALABSORPTIVE CONGENITAL
DIARRHEA 5 WITH TUFTING ENTEROPATHY CONGENITAL
DIARRHEA 6
DIARRHEA 7 PROTEIN-LOSING ENTEROPATHY TYPE
DIARRHEA 8 SECRETORY SODIUM CONGENITAL
DIARRHEA 9
Diastrophic dwarfism
Diastrophic dysplasia
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Dicarboxylic aminoaciduria
Diencephalic-mesencephalic junction dysplasia
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2
Dienoyl-CoA reductase deficiency with hyperlysinemia
DIETS-JONGMANS SYNDROME
Differentiated thyroid carcinoma
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive ...
Diffuse cutaneous systemic sclerosis
Diffuse palmoplantar keratoderma with painful fissures
Diffuse panbronchiolitis
DIGEORGE SYNDROME
DIGITAL ARTHROPATHY-BRACHYDACTYLY FAMILIAL
DIGITAL CLUBBING ISOLATED CONGENITAL
Dihydrolipoamide Dehydrogenase (E3) Deficiency
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
Dihydropteridine reductase deficiency
DIHYDROPYRIMIDINASE DEFICIENCY
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Dihydropyrimidinuria
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY
Disorder of Golgi homeostasis
Disordered cortical neuronal migration
DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
Disseminated superficial actinic porokeratosis
Distal 16p11.2 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal anoctaminopathy
DISTAL ARTHROGRYPOSIS TYPE
Distal arthrogryposis type 1
DISTAL ARTHROGRYPOSIS TYPE 2A
Distal arthrogryposis type 5D
Distal hereditary motor neuropathy Jerash type
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 7
Distal monosomy 12p
Distal monosomy 15q
Distal monosomy 1q
Distal myopathy Tateyama type
Distal myopathy Welander type
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myotilinopathy
Distal nebulin myopathy
Distal renal tubular acidosis with anemia
distal renal tubular acidosis with deafness
DISTINCT DNA BREAKAGE SYNDROME
DITRA
DK1-CDG
DKC1-Related Dyskeratosis Congenita
DL-2-hydroxyglutaric aciduria
DLG4 related intellectual disability
DLG5-associated developmental disorder biallelic
DLG5-associated developmental disorder monoallelic
DNA Repair-Proficient Trichothiodystrophy
DNA2-related mitochondrial DNA deletion syndrome
DNAJB2-related Charcot-Marie-Tooth disease type 2
DNAJB6-related limb-girdle muscular dystrophy D1
DNM1L-related developmental disorder monoallelic
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
DOCK2 deficiency
Dominant beta-thalassemia
Dominant dystrophic epidermolysis bullosa nails only
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
DONNAI-BARROW SYNDROME
DONOHUE SYNDROME
DOORS syndrome
Dopa-Responsive Dystonia
Dopa-responsive dystonia due to sepiapterin reductase deficiency
DOPAMINE BETA-HYDROXYLASE DEFICIENCY
DOWLING-DEGOS DISEASE
DOWLING-DEGOS DISEASE 1
Dowling-Degos disease 2
DOWLING-DEGOS DISEASE 4
DOWN SYNDROME
DOYNE HONEYCOMB RETINAL DYSTROPHY
DPAGT1-CDG
DPM1-CDG
DPM3-CDG
DPYSL5-related developmental disorder monoallelic
DRAVET SYNDROME
DRUG METABOLISM ALTERED CES1-RELATEDCARBOXYLESTERASE 1 DEFICIENCY INCLUDED
DRUG METABOLISM ALTERED CYP2C8-RELATED
DRUG METABOLISM POOR CYP2C19-RELATEDMEPHENYTOIN POOR METABOLISM OF INCLUDED
DRUG METABOLISM POOR CYP2D6-RELATED DRUG METABOLISM ULTRARAPID CYP2D6-RELATED ...
Drug- or toxin-induced pulmonary arterial hypertension
DSP-related developmental disorder
Du Pan syndrome
Duane retraction syndrome
DUANE RETRACTION SYNDROME 2
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
Duane retraction syndrome with congenital deafness
Duane Syndrome Aberrant Extraocular Muscle Innervation and Inner-Ear Defects
DUANE-RADIAL RAY SYNDROME
DUBIN-JOHNSON SYNDROME
Dubowitz syndrome
Duchenne Muscular Dystrophy
DYGGVE-MELCHIOR-CLAUSEN DISEASE
DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular ...
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 ...
Dysbetalipoproteinemia
DYSCHROMATOSIS SYMMETRICA HEREDITARIA
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Dyschromatosis universalis hereditaria
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
Dyschromatosis universalis hereditaria 3
Dysequilibrium syndrome
Dysferlin-related limb-girdle muscular dystrophy R2
DYSFIBRINOGENEMIA CONGENITALHYPODYSFIBRINOGENEMIA CONGENITAL INCLUDED
Dyskeratosis congenita
DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 3
DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 4
DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 1
Dyskeratosis congenita autosomal recessive 2
DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 3
DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 4
DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA X-LINKED
DYSKINESIA FAMILIAL WITH FACIAL MYOKYMIA
DYSKINESIA LIMB AND OROFACIAL INFANTILE-ONSET
DYSLEXIA SUSCEPTIBILITY TO 1
Dysmorphic Features Intellectual Disability and Neurological Manifestations
Dysosteosclerosis
Dyssegmental dysplasia Silverman-Handmaker type
Dysspondyloenchondromatosis
DYSTONIA 1 TORSION AUTOSOMAL DOMINANT
DYSTONIA 11 MYOCLONIC
DYSTONIA 12
DYSTONIA 16
DYSTONIA 2 TORSION AUTOSOMAL RECESSIVE
DYSTONIA 24
DYSTONIA 25
DYSTONIA 26 MYOCLONIC
DYSTONIA 27
DYSTONIA 28 CHILDHOOD-ONSET
DYSTONIA 3 TORSION X-LINKED
DYSTONIA 4 TORSION AUTOSOMAL DOMINANT
DYSTONIA 6 TORSION
DYSTONIA 9
Dystonia childhood-onset with optic atrophy and basal ganglia abnormalities
DYSTONIA DOPA-RESPONSIVE
DYSTONIA DOPA-RESPONSIVE DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
DYSTONIA JUVENILE-ONSET
DYSTONIA TYPE 5
Dystonia-parkinsonism-hypermanganesemia syndrome
DYSTROPHIA MYOTONICA TYPE 1
Dystrophic epidermolysis bullosa pruriginosa
Ear-patella-short stature syndrome
Early infantile epileptic encephalopathy
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY
Early myoclonic encephalopathy
Early onset epileptic encephalopathy
Early Onset Isolated Mitochondrial Complex I Deficiency
Early-onset anterior polar cataract
Early-onset autosomal dominant Alzheimer disease
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Early-Onset Epilepsy
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A ...
Early-Onset epileptic encephalopathy with persistent myelination defect.
Early-onset epileptic encephalopathy-cortical blindness-intellectual syndrome ...
Early-onset familial noncirrhotic portal hypertension
Early-onset generalized limb-onset dystonia
Early-onset Lafora body disease
Early-onset lamellar cataract
Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
Early-onset myopathy with fatal cardiomyopathy
Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-Onset Neurodegenerative Encephalopathy
Early-onset nuclear cataract
Early-onset parkinsonism-intellectual disability syndrome
Early-onset posterior polar cataract
Early-onset posterior subcapsular cataract
Early-onset progressive diffuse brain atrophy-microcephaly-muscle atrophy ...
Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain ...
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Early-onset seizures-distal limb anomalies-facial dysmorphism-global delay ...
Early-Onset Severe Encephalopathy
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Early-onset sutural cataract
EAST syndrome
East Texas bleeding disorder
Ebstein malformation of the tricuspid valve
ECTODERMAL DYSPLASIA 1 HYPOHIDROTIC X-LINKED
ECTODERMAL DYSPLASIA 10A HYPOHIDROTIC/HAIR/NAIL TYPE AUTOSOMAL DOMINANT
Ectodermal dysplasia 10B hypohidrotic/hair/tooth type autosomal recessive
ECTODERMAL DYSPLASIA 11A HYPOHIDROTIC/HAIR/TOOTH TYPE AUTOSOMAL DOMINANT
Ectodermal dysplasia 11b hypohidrotic/hair/tooth type autosomal recessive
ECTODERMAL DYSPLASIA 12 HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
ECTODERMAL DYSPLASIA 13 HAIR/TOOTH TYPE
ECTODERMAL DYSPLASIA 14 HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
ECTODERMAL DYSPLASIA 15 HYPOHIDROTIC/HAIR TYPE
Ectodermal dysplasia 4 hair/nail type
Ectodermal dysplasia 7 hair/nail type
ECTODERMAL DYSPLASIA 9 HAIR/NAIL TYPE
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
Ectodermal dysplasia anhidrotic with immunodeficiency X-linked
ECTODERMAL DYSPLASIA ECTRODACTYLY AND MACULAR DYSTROPHY SYNDROME
ectodermal dysplasia type 1
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL OCULAR AND BRAIN ...
Ectodermal dysplasia-syndactyly syndrome
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Ectodermal dysplasia/short stature syndrome
ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
ECTOPIA LENTIS 1 ISOLATED AUTOSOMAL DOMINANT
ECTOPIA LENTIS 2 ISOLATED AUTOSOMAL RECESSIVE
ECTOPIA LENTIS ET PUPILLAE
ECTRODACTYLY ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE SYNDROME 3
ECULIZUMAB POOR RESPONSE TO
EDICT syndrome
EEC syndrome
EEF2-related developmental disorder monoallelic
EEM syndrome
EFAVIRENZ POOR METABOLISM OF EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY TO ...
EHLERS-DANLOS SYNDROME ARTHROCHALASIA TYPE 1
EHLERS-DANLOS SYNDROME ARTHROCHALASIA TYPE 2
Ehlers-Danlos syndrome cardiac valvular type
EHLERS-DANLOS SYNDROME CLASSIC TYPE 1
EHLERS-DANLOS SYNDROME CLASSIC TYPE 2
EHLERS-DANLOS SYNDROME CLASSIC-LIKE
EHLERS-DANLOS SYNDROME CLASSIC-LIKE 2
Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos Syndrome Kyphoscoliotic Form
EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC TYPE 1
EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC TYPE 2
EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE
EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 1
EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 2
EHLERS-DANLOS SYNDROME PERIODONTAL TYPE 1
EHLERS-DANLOS SYNDROME PERIODONTAL TYPE 2
EHLERS-DANLOS SYNDROME PROGEROID TYPE
EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 1
EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 2
EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 3
Ehlers-Danlos syndrome vascular type
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss
EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA
Ehlers-Danlos/osteogenesis imperfecta syndrome
EHMT1-LIKE INTELLECTUAL DISABILITY
EHMT1-like SYNDROME
EIF2AK1-associated Neurodevelopmental Syndrome
EIF2AK2-associated Developmental Delay Leukoencephalopathy and Neurologic ...
EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
EIF3F related developmental disorder
EIKEN SYNDROME
ELLIPTOCYTOSIS 1
ELLIPTOCYTOSIS 2
ELLIPTOCYTOSIS 3
Ellis Van Creveld syndrome
ELLIS-VAN CREVELD SYNDROME
ELN-Related Cutis Laxa
ELSAHY-WATERS SYNDROME
Emberger syndrome
embryonal rhabdomyosarcoma
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LINKED
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2 AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 3 AUTOSOMAL RECESSIVE
Emery-Dreifuss muscular dystrophy 4 autosomal dominant
Emery-dreifuss muscular dystrophy 5 autosomal dominant
Emery-Dreifuss muscular dystrophy 6 X-linked
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7 AUTOSOMAL DOMINANT
Emery-Dreifuss muscular dystrophy type 2
EMILIN-1-related connective tissue disease
Enamel-renal syndrome
ENCEPHALITIS/ENCEPHALOPATHY MILD WITH REVERSIBLE MYELIN VACUOLIZATION
Encephalocraniocutaneous lipomatosis
ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 1
ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 2
ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 5
ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 6
ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 7
ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 8
ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 3
ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 4
ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 9
Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex and a ...
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
Encephalopathy due to prosaposin deficiency
ENCEPHALOPATHY ETHYLMALONIC
ENCEPHALOPATHY FAMILIAL WITH NEUROSERPIN INCLUSION BODIES
ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY NEONATAL SEVERE WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN ATROPHY AND SPASTICITY
ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN ATROPHY AND THIN CORPUS ...
ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN EDEMA AND/OR 1 ...
ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN EDEMA AND/OR 2 ...
ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH EPISODIC RHABDOMYOLYSIS
ENCEPHALOPATHY PROGRESSIVE WITH AMYOTROPHY AND OPTIC ATROPHY
Encephalopathy progressive with or without lipodystrophy
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Endocrine-cerebro-osteodysplasia syndrome
ENDOCRINE-CEREBROOSTEODYSPLASIA
Endometrial Cancer
Endometrial stromal sarcoma
Endosteal Hyperostosis and Oligodontia
ENDOSTEAL HYPEROSTOSIS AUTOSOMAL DOMINANT
ENDOSTEAL HYPEROSTOSIS WORTH TYPE
Endosteal sclerosis-cerebellar hypoplasia syndrome
Enhanced Growth and Connective Tissue Abnormalities
ENHANCED S-CONE SYNDROME
Enlarged parietal foramina
Enlarged Parietal Foramina/Cranium Bifidum
ENOLASE SPERM SPECIFIC
Enteric anendocrinosis
ENTEROKINASE DEFICIENCY
Enzalutamide toxicity
EOSINOPHIL PEROXIDASE DEFICIENCY
Ependymoma
EPIDERMODYSPLASIA VERRUCIFORMIS
EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 1
EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 2
EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 3
EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 4
EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 5
EPIDERMOLYSIS BULLOSA DYSTROPHICA AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA DYSTROPHICA AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA DYSTROPHICA PRETIBIAL
EPIDERMOLYSIS BULLOSA JUNCTIONAL HERLITZ TYPE
EPIDERMOLYSIS BULLOSA JUNCTIONAL NON-HERLITZ TYPE
EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
EPIDERMOLYSIS BULLOSA LETHAL ACANTHOLYTIC
EPIDERMOLYSIS BULLOSA NONSPECIFIC AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA PRURIGINOSA
EPIDERMOLYSIS BULLOSA SIMPLEX AUTOSOMAL RECESSIVE 1
Epidermolysis bullosa simplex autosomal recessive 2
Epidermolysis bullosa simplex autosomal recessive K14
EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA TYPE
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
EPIDERMOLYSIS BULLOSA SIMPLEX GENERALIZED
Epidermolysis bullosa simplex generalized intermediate
Epidermolysis bullosa simplex generalized severe
Epidermolysis bullosa simplex generalized with scarring and hair loss
EPIDERMOLYSIS BULLOSA SIMPLEX LOCALIZED
EPIDERMOLYSIS BULLOSA SIMPLEX OGNA TYPE
Epidermolysis bullosa simplex with circinate migratory erythema
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
Epidermolysis bullosa simplex with nail dystrophy
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY ...
Epidermolysis Bullosa with Pyloric Atresia
EPIDERMOLYTIC HYPERKERATOSIS
Epidermolytic palmoplantar keratoderma
Epilepsy and intellectual disability
EPILEPSY CHILDHOOD ABSENCE SUSCEPTIBILITY TO 5
EPILEPSY CHILDHOOD ABSENCE SUSCEPTIBILITY TO 6
EPILEPSY EARLY-ONSET VITAMIN B6-DEPENDENT
EPILEPSY EARLY-ONSET WITH OR WITHOUT DEVELOPMENTAL DELAY
EPILEPSY FAMILIAL ADULT MYOCLONIC 1
EPILEPSY FAMILIAL ADULT MYOCLONIC 2
EPILEPSY FAMILIAL ADULT MYOCLONIC 3
EPILEPSY FAMILIAL ADULT MYOCLONIC 4
Epilepsy familial adult myoclonic 5
EPILEPSY FAMILIAL ADULT MYOCLONIC 6
EPILEPSY FAMILIAL ADULT MYOCLONIC 7
EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1
EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 2
EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3
EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4
EPILEPSY FAMILIAL TEMPORAL LOBE 1
EPILEPSY FAMILIAL TEMPORAL LOBE 5
EPILEPSY FAMILIAL TEMPORAL LOBE 7
EPILEPSY FAMILIAL TEMPORAL LOBE 8
Epilepsy focal with speech disorder and with or without mental retardation
Epilepsy generalized with febrile seizures plus type 3
EPILEPSY HEARING LOSS AND MENTAL RETARDATION SYNDROME
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 10
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 11
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 12
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 13
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 14
Epilepsy idiopathic generalized susceptibility to 15
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 16
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 8
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 9
EPILEPSY JUVENILE ABSENCE SUSCEPTIBILITY TO 1
EPILEPSY JUVENILE MYOCLONIC SUSCEPTIBILITY TO 10
EPILEPSY NOCTURNAL FRONTAL LOBE 1
EPILEPSY NOCTURNAL FRONTAL LOBE 3
EPILEPSY NOCTURNAL FRONTAL LOBE 4
EPILEPSY NOCTURNAL FRONTAL LOBE 5
Epilepsy progressive myoclonic 10
EPILEPSY PROGRESSIVE MYOCLONIC 11
EPILEPSY PROGRESSIVE MYOCLONIC 1B
EPILEPSY PROGRESSIVE MYOCLONIC 3 WITH OR WITHOUT INTRACELLULAR INCLUSIONS
Epilepsy progressive myoclonic 4 with or without renal failure
EPILEPSY PROGRESSIVE MYOCLONIC 6
Epilepsy progressive myoclonic 7
EPILEPSY PROGRESSIVE MYOCLONIC 8
Epilepsy progressive myoclonic 9
EPILEPSY PYRIDOXINE-DEPENDENT
Epilepsy rolandic with paroxysmal exercise-induced dystonia and writers cramp
Epilepsy with myoclonic-Atonic seizures
EPILEPSY X-LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Epileptic encephalopathy
Epileptic encephalopathy childhood-onset
Epileptic Encephalopathy due to congenital disorder of glycosylation
Epileptic encephalopathy early infantile
Epileptic Encephalopathy Early Infantile 12
Epileptic encephalopathy early infantile 13
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 23
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24
Epileptic encephalopathy early infantile 26
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 28
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 3
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9
EPILEPTIC ENCEPHALOPATHY Gain-of-function
EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1
EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 2
EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 3
Epileptic encephalopathy Lennox-Gastaut type
EPILEPTIC ENCEPHALOPATHY Loss-of-function
Epileptic encephalopathy with complex movement disorder and regression
Epileptic encephalopathy with continuous spike-and-wave during sleep
Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesia
Epileptic encephalopathy with global cerebral demyelination
Epileptic Encephalopathy with Optic Atrophy
Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Epimerase-deficiency galactosemia
Epiphyseal chondrodysplasia miura type
EPIPHYSEAL DYSPLASIA MULTIPLE 1
EPIPHYSEAL DYSPLASIA MULTIPLE 2
EPIPHYSEAL DYSPLASIA MULTIPLE 3
EPIPHYSEAL DYSPLASIA MULTIPLE 4
EPIPHYSEAL DYSPLASIA MULTIPLE 5
EPIPHYSEAL DYSPLASIA MULTIPLE 6
EPIPHYSEAL DYSPLASIA MULTIPLE 7
EPIPHYSEAL DYSPLASIA MULTIPLE WITH EARLY-ONSET DIABETES MELLITUS
Epiphyseal dysplasia multiple with myopia and conductive deafness
Episodes of Liver Failure Peripheral Neuropathy Cerebellar Atrophy and Ataxia
Episodic ataxia type 1
EPISODIC ATAXIA TYPE 2
Episodic ataxia type 5
Episodic ataxia type 6
EPISODIC ATAXIA TYPE 9
EPISODIC KINESIGENIC DYSKINESIA 1
EPISODIC PAIN SYNDROME FAMILIAL
EPISODIC PAIN SYNDROME FAMILIAL 1
EPISODIC PAIN SYNDROME FAMILIAL 2
Episodic pain syndrome familial 3
Epithelial basement membrane dystrophy
Epithelial recurrent erosion dystrophy
Epithelioid hemangioendothelioma
EPT1-related complex progressive hereditary spastic paraplegia
ERYTHERMALGIA PRIMARY
ERYTHROCYTE AMP DEAMINASE DEFICIENCY
Erythrocyte galactose epimerase deficiency
ERYTHROCYTE LACTATE TRANSPORTER DEFECT
ERYTHROCYTOSIS FAMILIAL 1
ERYTHROCYTOSIS FAMILIAL 2 AUTOSOMAL RECESSIVE
ERYTHROCYTOSIS FAMILIAL 3
ERYTHROCYTOSIS FAMILIAL 4
ERYTHROCYTOSIS FAMILIAL 5
ERYTHROCYTOSIS FAMILIAL 6
ERYTHROCYTOSIS FAMILIAL 7
ERYTHROCYTOSIS FAMILIAL 8
Erythroderma congenital with palmoplantar keratoderma hypotrichosis and ...
ERYTHRODERMA ICHTHYOSIFORM CONGENITAL RETICULAR
Erythrokeratodermia variabilis
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
Erythrokeratodermia-cardiomyopathy syndrome
ERYTHROLEUKEMIA FAMILIAL SUSCEPTIBILITY TO
ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA SUSCEPTIBILITY TO INCLUDED
Essential fructosuria
Essential thrombocythemia
ESTROGEN RESISTANCE
Estrogen resistance syndrome
Ethylmalonic encephalopathy
EVEN-PLUS SYNDROME
Ewing sarcoma
Exercise-induced hyperinsulinism
Exercise-induced malignant hyperthermia
Exfoliation syndrome
Exfoliative ichthyosis
Exfoliative ichthyosis autosomal recessive ichthyosis bullosa of Siemens-like
EXOCRINE PANCREATIC INSUFFICIENCY DYSERYTHROPOIETIC ANEMIA AND CALVARIAL ...
Exostoses multiple type 2
EXOSTOSES MULTIPLE TYPE I
EXOSTOSES MULTIPLE TYPE II
External auditory canal aplasia/hypoplasia
External Ophthalmoplegia Rib and Vertebral Anomalies
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
EXTREME MYOPIA;MYOPIA 23 AUTOSOMAL RECESSIVE
EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
EXUDATIVE VITREORETINOPATHY 1
EXUDATIVE VITREORETINOPATHY 2 X-LINKED
Exudative vitreoretinopathy 4
EXUDATIVE VITREORETINOPATHY 5
Exudative vitreoretinopathy 6
EXUDATIVE VITREORETINOPATHY 7
F12-related hereditary angioedema with normal C1Inh
FABRY DISEASE
FACIAL CLEFTING OBLIQUE 1
Facial dysmorphism hypertrichosis epilepsy intellectual delay and gingival ...
FACIAL DYSMORPHISM HYPERTRICHOSIS EPILEPSY INTELLECTUAL/DEVELOPMENTAL DELAY AND ...
FACIAL DYSMORPHISM IMMUNODEFICIENCY LIVEDO AND SHORT STATURE
FACIAL DYSMORPHISM LENS DISLOCATION ANTERIOR SEGMENT ABNORMALITIES AND BLEBS ...
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to ...
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to ...
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous ...
FACIAL PALSY CONGENITAL WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
FACIAL PARESIS HEREDITARY CONGENITAL 3
Facioscapulohumeral dystrophy
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2
FACTOR V AND FACTOR VIII COMBINED DEFICIENCY OF 1
FACTOR V AND FACTOR VIII COMBINED DEFICIENCY OF 2
FACTOR V DEFICIENCY
FACTOR VII DEFICIENCY
FACTOR X DEFICIENCY
FACTOR XI DEFICIENCY
FACTOR XII DEFICIENCY
FACTOR XIII A SUBUNIT DEFICIENCY OF
FACTOR XIII B SUBUNIT DEFICIENCY OF
FADD-related immunodeficiency
FAILURE OF TOOTH ERUPTION PRIMARY
Familial hyperprolactinemia
Familial abdominal aortic aneurysm
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis 1
FAMILIAL ADENOMATOUS POLYPOSIS 2
FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 4
Familial adenomatous polyposis due to 5q22.2 microdeletion
FAMILIAL ADVANCED SLEEP-PHASE SYNDROME
Familial afibrinogenemia
Familial Alzheimer-like prion disease
Familial aortic dissection
Familial apolipoprotein A5 deficiency
Familial apolipoprotein C-II deficiency
Familial atrial fibrillation
Familial atrial myxoma
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Familial atypical multiple mole melanoma syndrome
Familial avascular necrosis of femoral head
Familial benign chronic pemphigus
Familial benign flecked retina
Familial bicuspid aortic valve
Familial calcium pyrophosphate deposition
Familial cavitary optic disc anomaly
Familial cerebral cavernous malformation
Familial cerebral saccular aneurysm
Familial Chilblain lupus
Familial clubfoot due to 17q23.1q23.2 microduplication
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
Familial cold autoinflammatory syndrome 4
Familial cold urticaria
Familial colorectal cancer Type X
Familial congenital mirror movements
Familial congenital nasolacrimal duct obstruction
Familial cortical myoclonus
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition ...
Familial cylindromatosis
Familial Diarrhea DIARRHEA 6
Familial digital arthropathy-brachydactyly
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial drusen
Familial dysautonomia
Familial dysfibrinogenemia
Familial dyskinesia and facial myokymia
Familial encephalopathy with neuroserpin inclusion bodies
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
FAMILIAL EXPANSILE OSTEOLYSIS
Familial exudative vitreoretinopathy
FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI
Familial gastric type 1 neuroendocrine tumor
Familial generalized lentiginosis
Familial gestational hyperthyroidism
Familial glucocorticoid deficiency
Familial GPIHBP1 deficiency
Familial hemophagocytic lymphohistiocytosis
Familial Horizontal Gaze Palsy with Progressive Scoliosis
Familial hyperaldosteronism type I
Familial hyperaldosteronism type III
Familial hypercholanemia
familial hyperinsulinism
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis ...
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypoaldosteronism
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial infantile bilateral striatal necrosis
Familial infantile myoclonic epilepsy
Familial Infantile Myofibromatosis
Familial isolated arrhythmogenic ventricular dysplasia biventricular form
Familial isolated arrhythmogenic ventricular dysplasia left dominant form
Familial isolated arrhythmogenic ventricular dysplasia right dominant form
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial Isolated Hypoparathyroidism
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial isolated pituitary adenoma
Familial isolated restrictive cardiomyopathy
Familial isolated trichomegaly
Familial lambdoid synostosis
Familial LCAT deficiency
Familial lipase maturation factor 1 deficiency
Familial lipoprotein lipase deficiency
Familial male-limited precocious puberty
FAMILIAL MEDITERRANEAN FEVER
FAMILIAL MEDITERRANEAN FEVER AUTOSOMAL DOMINANT
Familial medullary thyroid carcinoma
Familial melanoma
Familial mesial temporal lobe epilepsy with febrile seizures
Familial mitral valve prolapse
Familial multinodular goiter
Familial multiple meningioma
Familial multiple nevi flammei
Familial multiple trichoepithelioma
Familial normophosphatemic tumoral calcinosis
Familial or sporadic hemiplegic migraine
Familial osteochondritis dissecans
Familial pancreatic carcinoma
Familial papillary or follicular thyroid carcinoma
Familial paroxysmal ataxia
Familial partial lipodystrophy Dunnigan type
Familial partial lipodystrophy Kobberling type
FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2
Familial patent arterial duct
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial porphyria cutanea tarda
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with ...
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis severe ...
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Familial primary localized cutaneous amyloidosis
Familial progressive cardiac conduction defect
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
Familial progressive retinal dystrophy-iris coloboma-congenital cataract ...
Familial prostate cancer
Familial pseudohyperkalemia
Familial renal glucosuria
Familial retinal arterial macroaneurysm
Familial rhabdoid tumor
Familial scaphocephaly syndrome McGillivray type
Familial schizencephaly
FAMILIAL SCHIZENCEPHALY EMX2-RELATED
Familial short QT syndrome
Familial sick sinus syndrome
Familial spontaneous pneumothorax
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial thoracic aortic aneurysm and aortic dissection
Familial thrombocytosis
Familial thyroid dyshormonogenesis
Familial vesicoureteral reflux
Familial visceral myopathy
FANCB-Related Fanconi Anemia
FANCM-Related Fanconi Anemia
Fanconi anemia
Fanconi anemia complementation group 0
FANCONI ANEMIA COMPLEMENTATION GROUP A
FANCONI ANEMIA COMPLEMENTATION GROUP B
Fanconi anemia complementation group C
FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
FANCONI ANEMIA COMPLEMENTATION GROUP D1
FANCONI ANEMIA COMPLEMENTATION GROUP D2
FANCONI ANEMIA COMPLEMENTATION GROUP E
FANCONI ANEMIA COMPLEMENTATION GROUP F
FANCONI ANEMIA COMPLEMENTATION GROUP G
Fanconi anemia complementation group I
FANCONI ANEMIA COMPLEMENTATION GROUP J
FANCONI ANEMIA COMPLEMENTATION GROUP L
FANCONI ANEMIA COMPLEMENTATION GROUP N
Fanconi anemia complementation group O
FANCONI ANEMIA COMPLEMENTATION GROUP P
Fanconi anemia complementation group Q
FANCONI ANEMIA COMPLEMENTATION GROUP R
FANCONI ANEMIA COMPLEMENTATION GROUP S
Fanconi anemia complementation group t
Fanconi anemia complementation group U
FANCONI ANEMIA COMPLEMENTATION GROUP V
FANCONI ANEMIA COMPLEMENTATION GROUP W
Fanconi renotubular syndrome 1
FANCONI RENOTUBULAR SYNDROME 2
FANCONI RENOTUBULAR SYNDROME 3
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
FANCONI RENOTUBULAR SYNDROME 5
FANCONI-BICKEL SYNDROME
Farber disease
Farber lipogranulomatosis
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
FASTKD2-related infantile mitochondrial encephalomyopathy
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Fatal encephalopathy lactic acidosis and severe mtDNA depletion in muscle
FATAL FAMILIAL INSOMNIA
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile hypertonic myofibrillar myopathy
Fatal Infantile Lactic Acidosis
Fatal infantile lactic acidosis with methylmalonic aciduria
Fatal mitochondrial disease due to combined oxidative phosphorylation defect 3 ...
Fatal post-viral neurodegenerative disorder
Fatty acid hydroxylase-associated neurodegeneration
Fatty acyl-CoA reductase 1 deficiency
FAZIO-LONDE DISEASE
FBLN1-related developmental delay-central nervous system anomaly-syndactyly ...
FBX028-related developmental and epileptic encephalopathy with profound ...
FBXW7-related developmental disorder monoallelic
FEBRILE SEIZURES FAMILIAL 11
FEBRILE SEIZURES FAMILIAL 4
FEBRILE SEIZURES FAMILIAL 8
FEINGOLD SYNDROME
FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 2
Feingold syndrome type 1
Feingold syndrome type 2
Female infertility due to oocyte meiotic arrest
Female infertility due to zona pellucida defect
Female restricted epilepsy with intellectual disability
Ferro-cerebro-cutaneous syndrome
FETAL AKINESIA DEFORMATION SEQUENCE
FETAL AKINESIA DEFORMATION SEQUENCE 1
FETAL AKINESIA DEFORMATION SEQUENCE 2
FETAL AKINESIA DEFORMATION SEQUENCE 3
FETAL AKINESIA DEFORMATION SEQUENCE 4
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal encasement syndrome
Fetal Gaucher disease
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
Fever-associated acute infantile liver failure syndrome
FG SYNDROME 2
FG SYNDROME 4
FG syndrome type 1
FG SYNDROME TYPE 4
FGF13-related neurodevelopmental disorder hemizygous
FGF13-related neurodevelopmental disorder X-linked dominant
FGF14-related episodic ataxia
FGFR2-related bent bone dysplasia
FHEIG (facial dysmorphism hypertrichosis epilepsy intellectual delay and ...
Fibrillary astrocytoma
Fibrochondrogenesis
FIBROCHONDROGENESIS 1
FIBROCHONDROGENESIS 2
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fibrolamellar hepatocellular carcinoma
FIBROMATOSIS GINGIVAL 1
FIBROMATOSIS GINGIVAL 5
Fibronectin glomerulopathy
Fibrosarcoma
FIBROSIS NEURODEGENERATION AND CEREBRAL ANGIOMATOSIS
FIBROSIS OF EXTRAOCULAR MUSCLES CONGENITAL 1
FIBROSIS OF EXTRAOCULAR MUSCLES CONGENITAL 2
Fibrosis of extraocular muscles congenital 3a with or without extraocular ...
Fibrosis of extraocular muscles congenital 5
FIBULAR APLASIA OR HYPOPLASIA FEMORAL BOWING AND POLY- SYN- AND OLIGODACTYLY
Fibular aplasia-complex brachydactyly syndrome
FICOLIN 3 DEFICIENCY
Filippi syndrome
Filippi syndrome. syndactyly type i with microcephaly and mental retardation
FISH-EYE DISEASE
FKRP-related limb-girdle muscular dystrophy R9
FLECK CORNEAL DYSTROPHY
FLECK RETINA FAMILIAL BENIGN
FLNA-related X-linked myxomatous valvular dysplasia
FLOATING-HARBOR SYNDROME
FOCAL CORTICAL DYSPLASIA TYPE II
FOCAL DERMAL HYPOPLASIA
Focal epilepsy
Focal epilepsy - intellectual disability - cerebro-cerebellar malformation
FOCAL FACIAL DERMAL DYSPLASIA 3 SETLEIS TYPE
FOCAL FACIAL DERMAL DYSPLASIA 4
Focal facial dermal dysplasia type III
Focal facial dermal dysplasia type IV
Focal palmoplantar keratoderma with joint keratoses
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4 SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
Focal segmental glomerulosclerosis 7
Focal segmental glomerulosclerosis 8
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOLATE MALABSORPTION HEREDITARY
Follicular lymphoma
FONTAINE PROGEROID SYNDROME
Formiminoglutamic aciduria
FOVEAL HYPOPLASIA 1
Foveal hypoplasia 2
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis ...
Foveal hypoplasia-presenile cataract syndrome
Fowler vasculopaty
FOXG1 syndrome
FOXP4-related Developmental Disorder
Fragile X syndrome
FRAGILE X TREMOR/ATAXIA SYNDROME
Fragile X-associated tremor/ataxia syndrome
FRAGILE X-E MENTAL RETARDATION SYNDROME
FRANK-TER HAAR SYNDROME
FRASER SYNDROME
FRASER SYNDROME 1
FRASER SYNDROME 2
FRASER SYNDROME 3
FRASIER SYNDROME
FRAXE intellectual disability
FRAXF syndrome
Free sialic acid storage disease infantile form
Freeman-Sheldon syndrome
Fried syndrome
FRIEDREICH ATAXIA
FRONTOMETAPHYSEAL DYSPLASIA
FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 1
Frontonasal dysplasia 2
FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA TYPE 1
FRONTONASAL DYSPLASIA TYPE 3
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontorhiny
FRONTOTEMPORAL DEMENTIA
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
FRONTOTEMPORAL DEMENTIA CHROMOSOME 3-LINKED
Frontotemporal dementia with motor neuron disease
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS GRN-RELATED
FRUCTOSE INTOLERANCE HEREDITARY
FRUCTOSE-16-BISPHOSPHATASE DEFICIENCY
FRUCTOSURIA ESSENTIAL
Fryns syndrome
FTH1-related iron overload
Fuchs endothelial corneal dystrophy
FUCOSIDOSIS
FUCOSYLTRANSFERASE 6 DEFICIENCY
FUHRMANN SYNDROME
Fukutin-related limb-girdle muscular dystrophy R13
FUMARASE DEFICIENCY
Fumaric aciduria
FUNDUS ALBIPUNCTATUS
FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS INCLUDED
GABA-TRANSAMINASE DEFICIENCY
GABRIELE-DE VRIES SYNDROME
GALACTOKINASE DEFICIENCY
Galactose mutarotase deficiency
GALACTOSEMIA
GALACTOSEMIA I
Galactosemia II
GALACTOSEMIA III
GALACTOSEMIA IV
GALACTOSIALIDOSIS
GALLBLADDER DISEASE 1
GALLBLADDER DISEASE 4
GALLOWAY-MOWAT SYNDROME
GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 2
GALLOWAY-MOWAT SYNDROME 2 X-LINKED
GALLOWAY-MOWAT SYNDROME 3
GALLOWAY-MOWAT SYNDROME 4
GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 6
GALLOWAY-MOWAT SYNDROME 7
GALLOWAY-MOWAT SYNDROME 8
Galloway-Mowat syndrome: microcephaly and steroid-Resistant nephrotic syndrome
Gamma-aminobutyric acid transaminase deficiency
Gamma-glutamyl transpeptidase deficiency
GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
GAND SYNDROME
GAP JUNCTION PROTEIN BETA-3
GAPO syndrome
GARDNER SYNDROME
Gastric adenocarcinoma and proximal polyposis of the stomach
GASTRIC CANCER HEREDITARY DIFFUSE
GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
Gastrointestinal stromal tumor
GASTROINTESTINAL ULCERATION RECURRENT WITH DYSFUNCTIONAL PLATELETS
GAUCHER DISEASE ATYPICAL DUE TO SAPOSIN C DEFICIENCY
Gaucher disease perinatal lethal
GAUCHER DISEASE TYPE 1
Gaucher disease type 2
Gaucher disease type 3
GAUCHER DISEASE TYPE I
GAUCHER DISEASE TYPE II
GAUCHER DISEASE TYPE III
GAUCHER DISEASE TYPE IIIC
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GAZE PALSY FAMILIAL HORIZONTAL WITH PROGRESSIVE SCOLIOSIS 1
GAZE PALSY FAMILIAL HORIZONTAL WITH PROGRESSIVE SCOLIOSIS 2 WITHIMPAIRED ...
GCGR-related hyperglucagonemia
GDF3 multiple malformations
GDF5-related Symphalangism Spectrum Disorder
GDF6 Oculo-Skeletal Syndrome
GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
Geleophysic dysplasia
GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 3
Gemistocytic astrocytoma
Generalized arterial calcification of infancy
Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets
Generalized dominant dystrophic epidermolysis bullosa
GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 10
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 7
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9
Generalized epilepsy with febrile seizures-plus
Generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized galactose epimerase deficiency
Generalized glucocorticoid resistance syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Generalized pseudohypoaldosteronism type 1
Generalized pustular psoriasis
Genetic hyperferritinemia without iron overload
Genetic recurrent myoglobinuria
Genetic steroid-resistant nephrotic syndrome
Genetic transient congenital hypothyroidism
Genitopatellar syndrome
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
Germinoma of the central nervous system
Geroderma osteodysplastica
GERODERMA OSTEODYSPLASTICUM
GERSTMANN-STRAUSSLER DISEASE
Gerstmann-Straussler-Scheinker syndrome
GHOSAL HEMATODIAPHYSEAL DYSPLASIA
Ghosal hematodiaphyseal syndrome
Giant axonal neuropathy
Giant axonal neuropathy 1
GIANT AXONAL NEUROPATHY 1 AUTOSOMAL RECESSIVE
GIANT AXONAL NEUROPATHY 2 AUTOSOMAL DOMINANT
Giant cell arteritis
Giant cell glioblastoma
GIGYF1-related developmental disorder monoallelic
GIL BLOOD GROUP
GILBERT SYNDROME
GILLES DE LA TOURETTE SYNDROME
Gillespie Syndrome
Gillespie Syndrome monoallelic
GILLESSEN-KAESBACH-NISHIMURA SYNDROME
Gingival fibromatosis-hypertrichosis syndrome
GIST-PLUS SYNDROME
GITELMAN SYNDROME
GLANZMANN THROMBASTHENIA
GLASS SYNDROME
GLAUCOMA 1 OPEN ANGLE A
GLAUCOMA 1 OPEN ANGLE F
GLAUCOMA 1 OPEN ANGLE G
GLAUCOMA 1 OPEN ANGLE O
GLAUCOMA 3 PRIMARY CONGENITAL A
GLAUCOMA 3 PRIMARY CONGENITAL D
GLAUCOMA 3 PRIMARY CONGENITAL E
GLAUCOMA 3 PRIMARY INFANTILE B
GLAUCOMA NORMAL TENSION SUSCEPTIBILITY TO
GLAUCOMA PRIMARY CLOSED-ANGLE
GLAUCOMA PRIMARY OPEN ANGLE
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
GLDC-Related Glycine Encephalopathy
GLI2-Related Holoprosencephaly
GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 9
Gliosarcoma
Global developmental delay absent or hypoplastic corpus callosum and dysmorphic ...
Global Developmental Delay Hypotonia Scoliosis and Cerebellar Atrophy
Global Developmental Delay Hypotonia Scoliosis and Cerebellar Atrophy Biallelic
GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH AND WILMS TUMOR
Global Developmental Delay Multiple Malformations
GLOBAL DEVELOPMENTAL DELAY PROGRESSIVE ATAXIA AND ELEVATED GLUTAMINE
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural ...
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Global developmental delay-neuro-ophthalmological disability syndrome ...
Global developmental delay-visual anomalies-progressive cerebellar hypotonia ...
GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
Glomuvenous malformation
GLOMUVENOUS MALFORMATIONS
GLUCOCORTICOID DEFICIENCY 1
GLUCOCORTICOID DEFICIENCY 2
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
GLUCOCORTICOID DEFICIENCY 5
GLUCOCORTICOID RESISTANCE GENERALIZED
GLUCOCORTICOID THERAPY RESPONSE TO
Glucose transporter type 1 deficiency syndrome
Glucose-galactose malabsorption
GLUCOSE/GALACTOSE MALABSORPTION
GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 2
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Glutamate-cysteine ligase deficiency
GLUTAMINE DEFICIENCY CONGENITAL
GLUTARIC ACIDEMIA I
Glutaric acidemia type 3
GLUTARIC ACIDURIA III
glutaric aciduria type 2A
glutaric aciduria type 2B
glutaric aciduria type 2C
Glutaricacidemia Type 1
Glutaryl-CoA dehydrogenase deficiency
GLUTATHIONE PEROXIDASE DEFICIENCY
GLUTATHIONE SYNTHETASE DEFICIENCY
GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES HEMOLYTIC ANEMIA DUE TO
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
GLUTATHIONURIA
GLYCEROL KINASE 2
Glycerol Kinase Deficiency
Glycerol kinase deficiency adult form
Glycerol kinase deficiency juvenile form
GLYCEROL QUANTITATIVE TRAIT LOCUS
GLYCINE ENCEPHALOPATHY
Glycine Encephalopathy with Arthrogryposis
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
GLYCINE N-METHYLTRANSFERASE DEFICIENCY
GLYCOGEN STORAGE DISEASE 0 LIVER
GLYCOGEN STORAGE DISEASE 0 MUSCLE
Glycogen storage disease due to acid maltase deficiency infantile onset
Glycogen storage disease due to acid maltase deficiency late-onset
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Glycogen storage disease due to glycogen branching enzyme deficiency adult form ...
Glycogen storage disease due to glycogen branching enzyme deficiency childhood ...
Glycogen storage disease due to glycogen branching enzyme deficiency childhood ...
Glycogen storage disease due to glycogen branching enzyme deficiency congenital ...
Glycogen storage disease due to glycogen branching enzyme deficiency fatal form ...
Glycogen storage disease due to glycogen branching enzyme deficiency non form ...
Glycogen storage disease due to glycogen branching enzyme deficiency hepatic ...
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease due to phosphoglycerate mutase deficiency
GLYCOGEN STORAGE DISEASE Ia
GLYCOGEN STORAGE DISEASE Ib
GLYCOGEN STORAGE DISEASE Ic
GLYCOGEN STORAGE DISEASE II
GLYCOGEN STORAGE DISEASE III
GLYCOGEN STORAGE DISEASE IV
GLYCOGEN STORAGE DISEASE IXa1
GLYCOGEN STORAGE DISEASE IXb
GLYCOGEN STORAGE DISEASE IXc
GLYCOGEN STORAGE DISEASE OF HEART LETHAL CONGENITAL
GLYCOGEN STORAGE DISEASE TYPE II
Glycogen Storage Disease Type III
GLYCOGEN STORAGE DISEASE TYPE IXd
Glycogen Storage Disease Type VI
GLYCOGEN STORAGE DISEASE V
GLYCOGEN STORAGE DISEASE VI
GLYCOGEN STORAGE DISEASE VII
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
GLYCOGEN STORAGE DISEASE X
GLYCOGEN STORAGE DISEASE XI
GLYCOGEN STORAGE DISEASE XII
GLYCOGEN STORAGE DISEASE XIII
GLYCOGEN STORAGE DISEASE XV
Glycosylation Disorder Characterized by Intellectual Disability and Autonomic ...
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM1-GANGLIOSIDOSIS TYPE I
GM1-GANGLIOSIDOSIS TYPE II
GM1-GANGLIOSIDOSIS TYPE III
GM2 gangliosidosis AB variant
GM2-GANGLIOSIDOSIS AB VARIANT
GM2-GANGLIOSIDOSIS TYPE 1
GM2-GANGLIOSIDOSIS TYPE 2
GM2-GANGLIOSIDOSIS TYPE AB
GM3 synthase deficiency
GMPPB-related limb-girdle muscular dystrophy R19
GNAI1 syndrome
GNATHODIAPHYSEAL DYSPLASIA
GNB2-related developmental disorder monoallelic
GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.
GNB5-related intellectual disability-cardiac arrhythmia syndrome
GNE myopathy
Goiter multinodular 1 with or without sertoli-leydig cell tumors
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
GOLDBERG-SHPRINTZEN SYNDROME
Goldmann-Favre syndrome
Gollop-Wolfgang complex
Gomez-Lopez-Fernandes syndrome
GONADAL DYSGENESIS DYSMORPHIC FACIES RETINAL DYSTROPHY AND MYOPATHY
GORDON HOLMES SYNDROME
Gordon syndrome
Gorlin syndrome
Gorlin-Chaudhry-Moss syndrome
Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis Progeroid ...
GRACILE BONE DYSPLASIA
GRACILE SYNDROME
GRAFT-VERSUS-HOST DISEASE SUSCEPTIBILITY TO
Graham Little-Piccardi-Lassueur syndrome
GRANGE SYNDROME
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Granulomatosis with polyangiitis
GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 1
GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 2
GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 3
GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 4
GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 5
GRANULOMATOUS DISEASE CHRONIC X-LINKED
GRAY PLATELET SYNDROME
Greenberg dysplasia
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
GRIA2-related developmental disorder monoallelic
GRID2-related cerebellar ataxia biallelic
GRID2-related cerebellar ataxia monoallelic
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis ...
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-intellectual disability-hepatopathy syndrome
GROWTH HORMONE DEFICIENCY ISOLATED PARTIAL
GROWTH HORMONE INSENSITIVITY PARTIAL
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1 AUTOSOMAL ...
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2 AUTOSOMAL ...
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
GROWTH RETARDATION DEVELOPMENTAL DELAY AND FACIAL DYSMORPHISM
GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH
GROWTH RETARDATION IMPAIRED INTELLECTUAL DEVELOPMENT HYPOTONIA ANDHEPATOPATHY
Growth Retardation with Prenatal Onset Intellectual Disability Muscular and ...
Growth retardation-mild developmental delay-chronic hepatitis syndrome
GTP CYCLOHYDROLASE 1 DEFICIENCY
GTP cyclohydrolase I deficiency
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
GUILLAIN-BARRE SYNDROME FAMILIAL
Guttmacher syndrome
Gynandroblastoma
GYRATE ATROPHY OF CHOROID AND RETINA
H syndrome
HACE1 related disorder
Haddad syndrome
Haim-Munk syndrome
HAIR MORPHOLOGY 1
Hairy cell leukemia variant
Hajdu-Cheney syndrome
HALLERMANN-STREIFF SYNDROME
HAMAMY SYNDROME
Hamel cerebro-palato-cardiac syndrome
HANAC syndrome
HAND-FOOT-GENITAL SYNDROME
HAO-FOUNTAIN SYNDROME
Harderoporphyria
HAREL-YOON SYNDROME
HARLEQUIN ICHTHYOSIS
Hartnup disease
HARTNUP DISORDER
HARTSFIELD SYNDROME
HASHIMOTO THYROIDITIS
HAWKINSINURIA
Hb Bart's Hydrops Fetalis
Hearing loss
HEART AND BRAIN MALFORMATION SYNDROME
Heart defect-tongue hamartoma-polysyndactyly syndrome
HEART DEFECTS CONGENITAL AND OTHER CONGENITAL ANOMALIES
HEART-HAND SYNDROME SLOVENIAN TYPE
HEIMLER SYNDROME 1
HEIMLER SYNDROME 2
HEINZ BODY ANEMIAS
HELICOBACTER PYLORI INFECTION SUSCEPTIBILITY TO
Helicoid peripapillary chorioretinal degeneration
HELIX SYNDROME
HELLP syndrome
HELSMOORTEL-VAN DER AA SYNDROME
HEMANGIOMA CAPILLARY INFANTILE
HEMATURIA BENIGN FAMILIAL
HEME OXYGENASE 1 DEFICIENCY
Hemihyperplasia-multiple lipomatosis syndrome
Hemimegalencephaly
Hemimegalencephaly AKT3
Hemimegalencephaly PIK3CA
HEMOCHROMATOSIS TYPE 1
Hemochromatosis type 2
HEMOCHROMATOSIS TYPE 2A
HEMOCHROMATOSIS TYPE 2B
Hemochromatosis type 3
Hemochromatosis type 4
Hemochromatosis type 5
Hemoglobin C disease
Hemoglobin C-beta-thalassemia syndrome
Hemoglobin D disease
Hemoglobin E disease
Hemoglobin E-beta-thalassemia syndrome
HEMOGLOBIN H DISEASE
HEMOGLOBIN HIGH ALTITUDE ADAPTATION
Hemoglobin Lepore-beta-thalassemia syndrome
Hemoglobin M disease
Hemoglobinopathy Toms River
HEMOLYTIC ANEMIA CD59-MEDIATED WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY
HEMOLYTIC ANEMIA CONGENITAL X-LINKED
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
HEMOLYTIC ANEMIA NONSPHEROCYTIC DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA NONSPHEROCYTIC DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 1
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 2
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 3
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 4
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 5
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 6
Hemolytic uremic syndrome with DGKE deficiency
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 3
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 4
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 5
HEMOPHILIA A
HEMOPHILIA B
HEMORRHAGE INTRACEREBRAL SUSCEPTIBILITY TO
Hemorrhagic destruction of the brain subependymal calcification and cataracts
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
Hennekam syndrome
HEPARIN COFACTOR II DEFICIENCY
HEPATIC ADENOMAS FAMILIAL
HEPATIC LIPASE DEFICIENCY
Hepatic veno-occlusive disease-immunodeficiency syndrome
HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY
HEPATITIS B VIRUS SUSCEPTIBILITY TO
HEPATITIS C VIRUS SUSCEPTIBILITY TO
HEPATITIS FULMINANT VIRAL SUSCEPTIBILITY TO
Hepatocellular Carcinoma
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatoerythropoietic porphyria
Hereditary 125-dihydroxyvitamin D-resistant rickets
Hereditary angioedema type 1
Hereditary angioedema type 2
Hereditary arterial and articular multiple calcification syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary central diabetes insipidus
Hereditary chronic pancreatitis
Hereditary clear cell renal cell carcinoma
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary cryohydrocytosis with normal stomatin
Hereditary cryohydrocytosis with reduced stomatin
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary elliptocytosis
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary ...
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary gingival fibromatosis
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hyperekplexia
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary isolated aplastic anemia
Hereditary late-onset Parkinson disease
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
Hereditary methemoglobinemia
Hereditary mixed polyposis syndrome
Hereditary motor and sensory neuropathy Okinawa type
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE IIC
HEREDITARY MULTIPLE EXOSTOSES TYPE 1
Hereditary Myopathy with Early Respiratory Failure
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary neuroendocrine tumor of small intestine
Hereditary neuropathy with liability to pressure palsies
Hereditary neutrophilia
Hereditary North American Indian childhood cirrhosis
Hereditary orotic aciduria
Hereditary palmoplantar keratoderma Gamborg-Nielsen type
Hereditary papillary renal cell carcinoma
Hereditary pediatric Behcet-like disease
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Hereditary pheochromocytoma-paraganglioma
Hereditary pulmonary alveolar proteinosis
Hereditary renal hypouricemia
Hereditary retinoblastoma
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 6
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 8
Hereditary sensory and autonomic neuropathy type VIII
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary site-specific ovarian cancer syndrome
Hereditary Spastic Paraparesis
Hereditary Spastic Paraplegia
Hereditary spherocytosis
Hereditary thrombocytopenia with early-onset myelofibrosis
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein ...
Heritable pulmonary arterial hypertension
Hermansky-Pudlak Syndrome
HERMANSKY-PUDLAK SYNDROME 1
Hermansky-Pudlak Syndrome 10
HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 4
Hermansky-Pudlak syndrome 5
HERMANSKY-PUDLAK SYNDROME 6
HERMANSKY-PUDLAK SYNDROME 7
HERMANSKY-PUDLAK SYNDROME 8
Hermansky-Pudlak syndrome 9
Hermansky-Pudlak syndrome type 7
Hermansky-Pudlak syndrome type 8
Hermansky-Pudlak syndrome type 9
Hermansky-Pudlak syndrome with neutropenia
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis
Herpes simplex virus encephalitis
HESX1-Related Combined Pituitary Hormone Deficiency
Heterotaxy Syndrome
HETEROTAXY VISCERAL 1 X-LINKED
HETEROTAXY VISCERAL 2 AUTOSOMAL
HETEROTAXY VISCERAL 4 AUTOSOMAL
HETEROTAXY VISCERAL 5 AUTOSOMAL
HETEROTAXY VISCERAL 6 AUTOSOMAL
HETEROTAXY VISCERAL 7 AUTOSOMAL
HETEROTAXY VISCERAL 8 AUTOSOMAL
HETEROTAXY VISCERAL 9 AUTOSOMAL WITH MALE INFERTILITY
HEYN-SPROUL-JACKSON SYNDROME
HIBCH deficiency
Hidrotic ectodermal dysplasia
High bone mass osteogenesis imperfecta
HIGH BONE MASS TRAIT
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY
High myopia-sensorineural deafness syndrome
Hip dysplasia beukes type
HIRA-related neurodevelopmental disorder
Hirschprung disease with intestinal pseudo-obstruction
Hirschsprung disease
HIRSCHSPRUNG DISEASE CARDIAC DEFECTS AND AUTONOMIC DYSFUNCTION
HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 1
HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2
HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 3
HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 4
Hirschsprung disease-ganglioneuroblastoma syndrome
HIST1H2AC-related developmental disorder monoallelic
HIST1H4C
HISTIDINEMIA
Histiocytoid cardiomyopathy
HISTIOCYTOMA ANGIOMATOID FIBROUS
HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
HIVEP2 associated syndromic developmental delay with intellectual disability
HK1-related developmental disorder monoallelic
HNF1B-related autosomal dominant tubulointerstitial kidney disease
HNF4A-Related Maturity-Onset Diabetes of the Young Type 1
HNRNPD-related developmental disorder monoallelic
HNRNPDL-related limb-girdle muscular dystrophy D3
HNRNPH1-related neurodevelopmental disorder
Holmes-Gang syndrome
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Holoprosencephaly
Holoprosencephaly 11
HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS
HOLOPROSENCEPHALY 13 X-LINKED
HOLOPROSENCEPHALY 2
HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 4
HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 9
HOLOPROSENCEPHALY TYPE 3
HOLOPROSENCEPHALY-7
HOLT-ORAM SYNDROME
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at ...
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(510)-METHYLENETETRAHYDROFOLATEREDUCTASE ...
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria-megaloblastic anemia cbl E type
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA cblE COMPLEMENTATION TYPE
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA cblG COMPLEMENTATION TYPE
Homozygous familial hypercholesterolemia
Horizontal gaze palsy with progressive scoliosis
Hot water reflex epilepsy
HOYERAAL-HREIDARSSON SYNDROME
HPDL Neurodegenerative Disease
HS2ST1-related Developmental Disorder
HSD10 disease atypical type
HSD10 disease infantile type
HSD10 disease neonatal type
HSD10 MITOCHONDRIAL DISEASE
HTRA1-related autosomal dominant cerebral small vessel disease
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 SUSCEPTIBILITY TO
human piebaldism
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
HUNTINGTON DISEASE
HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 2
Huntington disease-like syndrome due to C9ORF72 expansions
Huriez syndrome
HURLER SYNDROME
HURLER-SCHEIE SYNDROME
HUTCHINSON-GILFORD PROGERIA SYNDROME
Hyaline body myopathy
HYALINE FIBROMATOSIS SYNDROME
Hyaluronidase deficiency
HYDATIDIFORM MOLE RECURRENT 1
HYDATIDIFORM MOLE RECURRENT 2
HYDATIDIFORM MOLE RECURRENT 3
HYDATIDIFORM MOLE RECURRENT 4
Hydranencephaly
HYDROCEPHALUS CONGENITAL 1
HYDROCEPHALUS CONGENITAL 2 WITH OR WITHOUT BRAIN OR EYE ANOMALIES
HYDROCEPHALUS CONGENITAL 3 WITH BRAIN ANOMALIES
HYDROCEPHALUS CONGENITAL COMMUNICATING 1
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS
HYDROCEPHALUS NONSYNDROMIC AUTOSOMAL RECESSIVE
HYDROCEPHALUS NONSYNDROMIC AUTOSOMAL RECESSIVE 2
HYDROCEPHALUS NORMAL-PRESSURE 1
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrolethalus
HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 2
HYDROLETHALUS SYNDROME TYPE 1
HYDROPS LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY
Hydroxykynureninuria
HYPER-IgD SYNDROME
HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 2 AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 3 AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 4 AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 5 AUTOSOMAL RECESSIVE
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
Hyperaldosteronism familial type I
Hyperaldosteronism familial type II
HYPERALDOSTERONISM FAMILIAL TYPE III
HYPERALDOSTERONISM FAMILIAL TYPE IV
HYPERALPHALIPOPROTEINEMIA 1
Hyperammonemia due to carbonic anhydrase VA deficiency
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperandrogenism due to cortisone reductase deficiency
HYPERBILIRUBINEMIA ROTOR TYPE
Hyperbilirubinemia transient familial neonatal
HYPERBILIVERDINEMIA
HYPERCALCEMIA INFANTILE 1
HYPERCALCEMIA INFANTILE 2
HYPERCALCIURIA ABSORPTIVE 2
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY AUTOSOMAL DOMINANT
Hyperchlorhidrosis isolated
HYPERCHOLANEMIA FAMILIAL
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
HYPERCHOLESTEROLEMIA FAMILIAL 1
HYPERCHOLESTEROLEMIA FAMILIAL 2
HYPERCHOLESTEROLEMIA FAMILIAL 3
HYPERCHOLESTEROLEMIA FAMILIAL 4
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hyperekplexia
HYPEREKPLEXIA 1
HYPEREKPLEXIA 2
HYPEREKPLEXIA 3
HYPEREKPLEXIA 4
Hyperekplexia-epilepsy syndrome
HYPEREOSINOPHILIC SYNDROME IDIOPATHIC
HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
HYPERGLYCINEMIA LACTIC ACIDOSIS AND SEIZURES
HYPERGLYCINURIA
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE
Hyperimmunoglobulinemia D with periodic fever
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 1
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 2
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 3
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 4
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 5
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 6
HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 7
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to UCP2 deficiency
Hyperinsulinism-hyperammonemia syndrome
HYPERKALEMIC PERIODIC PARALYSIS
Hyperkalemic Periodic Paralysis Type 1
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
HYPERLIPIDEMIA FAMILIAL COMBINED 1
HYPERLIPIDEMIA FAMILIAL COMBINED 3
Hyperlipoproteinemia type I
HYPERLIPOPROTEINEMIA TYPE ID
HYPERLIPOPROTEINEMIA TYPE III
HYPERLIPOPROTEINEMIA TYPE V
HYPERLYSINEMIA
HYPERLYSINEMIA TYPE I
HYPERMANGANESEMIA WITH DYSTONIA 1
HYPERMANGANESEMIA WITH DYSTONIA 2
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HYPEROSTOSIS CORTICALIS GENERALISATA
HYPEROSTOSIS CRANIALIS INTERNA
Hyperoxaluria Primary Type 1
HYPEROXALURIA PRIMARY TYPE I
HYPEROXALURIA PRIMARY TYPE II
HYPEROXALURIA PRIMARY TYPE III
HYPERPARATHYROIDISM 1
HYPERPARATHYROIDISM 2 WITH JAW TUMORS
HYPERPARATHYROIDISM 4
HYPERPARATHYROIDISM NEONATAL SEVERE
HYPERPARATHYROIDISM TRANSIENT NEONATAL
HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
HYPERPHENYLALANINEMIA BH4-DEFICIENT A
HYPERPHENYLALANINEMIA BH4-DEFICIENT B
HYPERPHENYLALANINEMIA BH4-DEFICIENT C
HYPERPHENYLALANINEMIA BH4-DEFICIENT D
Hyperphenylalaninemia due to DNAJC12 deficiency
Hyperphenylalaninemia Dystonia and Intellectual Disability
HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT
HYPERPHOSPHATASIA WITH MENTAL RETARDATION
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
Hyperphosphatasia with mental retardation syndrome 4
Hyperphosphatasia with mental retardation syndrome 5
Hyperphosphatasia with mental retardation syndrome 6
Hyperphosphatasia-intellectual disability syndrome
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION FAMILIAL PROGRESSIVE
Hyperproinsulinemia
HYPERPROLACTINEMIA
Hyperprolinemia type 1
HYPERPROLINEMIA TYPE 2
HYPERPROLINEMIA TYPE I
HYPERPROLINEMIA TYPE II
HYPERTELORISM SEVERE WITH MIDFACE PROMINENCE MYOPIA MENTAL RETARDATION AND BONE ...
Hypertelorism Teebi type
HYPERTENSION AND BRACHYDACTYLY SYNDROME
HYPERTENSION DIASTOLIC RESISTANCE TO
HYPERTENSION EARLY-ONSET AUTOSOMAL DOMINANT WITH SEVERE EXACERBATIONIN PREGNANCY
HYPERTENSION ESSENTIAL
HYPERTHYROIDISM FAMILIAL GESTATIONAL
HYPERTHYROIDISM NONAUTOIMMUNE
HYPERTHYROXINEMIA DYSTRANSTHYRETINEMIC
HYPERTHYROXINEMIA FAMILIAL DYSALBUMINEMIC
HYPERTRICHOSIS CONGENITAL GENERALIZED WITH OR WITHOUT GINGIVALHYPERPLASIA
Hypertrichosis-acromegaloid facial appearance syndrome
Hypertrichotic osteochondrodysplasia Cantu type
HYPERTRIGLYCERIDEMIA FAMILIAL
HYPERTRIGLYCERIDEMIA TRANSIENT INFANTILE
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA ...
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
HYPERTROPHIC OSTEOARTHROPATHY PRIMARY AUTOSOMAL RECESSIVE 1
HYPERTROPHIC OSTEOARTHROPATHY PRIMARY AUTOSOMAL RECESSIVE 2
Hypertryptophanemia
HYPERURICEMIA HPRT-RELATED
HYPERURICEMIA PULMONARY HYPERTENSION RENAL FAILURE AND ALKALOSISSYNDROME
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
HYPERURICEMIC NEPHROPATHY FAMILIAL JUVENILE 1
HYPERURICEMIC NEPHROPATHY FAMILIAL JUVENILE 2
HYPERURICEMIC NEPHROPATHY FAMILIAL JUVENILE 4
Hypervalinemia and hyperleucine-isoleucinemia
Hyperzincemia and hypercalprotectinemia
HYPOALPHALIPOPROTEINEMIA PRIMARY 1
HYPOALPHALIPOPROTEINEMIA PRIMARY 2
HYPOBETALIPOPROTEINEMIA FAMILIAL 1
HYPOBETALIPOPROTEINEMIA FAMILIAL 2
HYPOCALCEMIA AUTOSOMAL DOMINANT 1
Hypocalcemia autosomal dominant 2
Hypocalcemic vitamin D dependent rickets
Hypocalcemic vitamin D-resistant rickets
Hypocalcified amelogenesis imperfecta
HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE I
Hypocalciuric hypercalcemia familial type II
HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE III
Hypochondrogenesis
HYPOCHONDROPLASIA
Hypocomplementemic urticarial vasculitis
Hypodontia-dysplasia of nails syndrome
HYPOGLYCEMIA LEUCINE-INDUCED
HYPOGONADOTROPIC HYPOGONADISM
Hypogonadotropic hypogonadism 1 with or without anosmia
Hypogonadotropic hypogonadism 10 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 14 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 16 with or without anosmia
Hypogonadotropic hypogonadism 17 with or without anosmia
Hypogonadotropic hypogonadism 18 with or without anosmia
Hypogonadotropic hypogonadism 19 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 20 with or without anosmia
Hypogonadotropic hypogonadism 21 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypogonadotropic hypogonadism 8 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Hypogonadotropic hypogonadism with or without anosmia
Hypohidrosis-electrolyte imbalance-lacrimal gland syndrome ...
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability ...
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
Hypokalemic periodic paralysis
HYPOKALEMIC PERIODIC PARALYSIS TYPE 1
HYPOKALEMIC PERIODIC PARALYSIS TYPE 2
HYPOMAGNESEMIA 1 INTESTINAL
HYPOMAGNESEMIA 2 RENAL
HYPOMAGNESEMIA 3 RENAL
HYPOMAGNESEMIA 4 RENAL
HYPOMAGNESEMIA 5 RENAL WITH OCULAR INVOLVEMENT
HYPOMAGNESEMIA 5 RENAL WITH OR WITHOUT OCULAR INVOLVEMENT
HYPOMAGNESEMIA 6 RENAL
HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1
HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 2
Hypomaturation amelogenesis imperfecta
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypomyelinating Leukodystrophy
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination neuropathy-arthrogryposis syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Hypomyelination-congenital cataract syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
HYPOPARATHYROIDISM FAMILIAL ISOLATED 1
HYPOPARATHYROIDISM FAMILIAL ISOLATED 2
HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS AND RENAL DISEASE
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Hypophosphatasia
HYPOPHOSPHATASIA ADULT
HYPOPHOSPHATASIA CHILDHOOD
HYPOPHOSPHATASIA INFANTILE
Hypophosphatemic rickets AR
HYPOPHOSPHATEMIC RICKETS AUTOSOMAL DOMINANT
HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE 1
HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE 2
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA HEREDITARY
HYPOPHOSPHATEMIC RICKETS X-LINKED DOMINANT
HYPOPHOSPHATEMIC RICKETS X-LINKED RECESSIVE
HYPOPIGMENTATION ORGANOMEGALY AND DELAYED MYELINATION AND DEVELOPMENT
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoplasminogenemia
Hypoplastic amelogenesis imperfecta
HYPOPLASTIC LEFT HEART SYNDROME
HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 2
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Hypoplastic tibiae-postaxial polydactyly syndrome
Hypoprebetalipoproteinemia acanthocytosis retinitis pigmentosa and pallidal ...
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
HYPOSPADIAS 1 X-LINKED
HYPOSPADIAS 2 X-LINKED
Hypothryoidism congenital nongoitrous 4
HYPOTHYROIDISM CENTRAL WITH TESTICULAR ENLARGEMENT
HYPOTHYROIDISM CONGENITAL NONGOITROUS 1
HYPOTHYROIDISM CONGENITAL NONGOITROUS 2
HYPOTHYROIDISM CONGENITAL NONGOITROUS 4
HYPOTHYROIDISM CONGENITAL NONGOITROUS 5
HYPOTHYROIDISM CONGENITAL NONGOITROUS 6
HYPOTHYROIDISM CONGENITAL NONGOITROUS 7
HYPOTHYROIDISM CONGENITAL NONGOITROUS 8
HYPOTHYROIDISM CONGENITAL NONGOITROUS 9
Hypothyroidism due to deficient transcription factors involved in pituitary or ...
Hypothyroidism due to TSH receptor mutations
HYPOTHYROIDISM THYROIDAL OR ATHYROIDAL WITH SPIKY HAIR AND CLEFTPALATE
HYPOTONIA ATAXIA AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA ATAXIA DEVELOPMENTAL DELAY AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA HYPOVENTILATION IMPAIRED INTELLECTUAL DEVELOPMENT DYSAUTONOMIA AND ...
HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION
HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES
Hypotonia infantile with psychomotor retardation and characteristic facies 1
HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
Hypotonia infantile with psychomotor retardation and characteristic facies 3
Hypotonia with lactic acidemia and hyperammonemia
HYPOTONIA-CYSTINURIA SYNDROME
Hypotonia-speech impairment-severe cognitive delay syndrome
HYPOTRICHOSIS 1
HYPOTRICHOSIS 11
Hypotrichosis 12
Hypotrichosis 13
HYPOTRICHOSIS 14
HYPOTRICHOSIS 2
HYPOTRICHOSIS 3
HYPOTRICHOSIS 4
HYPOTRICHOSIS 5
HYPOTRICHOSIS 6
HYPOTRICHOSIS 7
HYPOTRICHOSIS 8
HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
HYPOTRICHOSIS CONGENITAL WITH JUVENILE MACULAR DYSTROPHY
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
Hypotrichosis simplex of the scalp 2
Hypotrichosis with juvenile macular degeneration
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
HYPOURICEMIA RENAL 1
HYPOURICEMIA RENAL 2
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
ICF syndrome
ichthyosis autosomal recessive with hypotrichosis
ICHTHYOSIS BULLOSA OF SIEMENS
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 1
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 10
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 11
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 12
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 13
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 14
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 2
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 3
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 4A
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 4B
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 5
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 6
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 8
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 9
ICHTHYOSIS CYCLIC WITH EPIDERMOLYTIC HYPERKERATOSIS
Ichthyosis follicularis-alopecia-photophobia syndrome
ICHTHYOSIS HYSTRIX CURTH-MACKLIN TYPE
Ichthyosis hystrix of Curth-Macklin
ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS
Ichthyosis lamellar 4
ICHTHYOSIS LAMELLAR AUTOSOMAL DOMINANT
ICHTHYOSIS LEUKOCYTE VACUOLES ALOPECIA AND SCLEROSING CHOLANGITIS
ICHTHYOSIS PREMATURITY SYNDROME
Ichthyosis spastic quadriplegia and mental retardation
ICHTHYOSIS VULGARIS
ICHTHYOSIS X-LINKED
Ichthyosis-hypotrichosis syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
ICHTHYOTIC KERATODERMA SPASTICITY HYPOMYELINATION AND DYSMORPHIC FACIAL FEATURES
Id macrocephaly and cerebellar hypoplasia
Idiopathic achalasia
Idiopathic aplastic anemia
Idiopathic bronchiectasis
Idiopathic CD4 lymphocytopenia
Idiopathic central precocious puberty
Idiopathic hypercalciuria
Idiopathic juvenile osteoporosis
Idiopathic pulmonary fibrosis
Idiopathic ventricular fibrillation non Brugada type
IFAP SYNDROME 1 WITH OR WITHOUT BRESHECK SYNDROME
IFAP SYNDROME 2
IgA NEPHROPATHY SUSCEPTIBILITY TO 3
IgE RESPONSIVENESS ATOPIC
IL21-related infantile inflammatory bowel disease
IMAGAWA-MATSUMOTO SYNDROME
IMAGe syndrome
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome 1
IMERSLUND-GRASBECK SYNDROME 2
IMINOGLYCINURIA
IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections ...
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent syndrome ...
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune thrombocytopenia
IMMUNODEFICIENCY 10
IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
Immunodeficiency 12
Immunodeficiency 13
IMMUNODEFICIENCY 14
IMMUNODEFICIENCY 15A
IMMUNODEFICIENCY 15B
IMMUNODEFICIENCY 16
IMMUNODEFICIENCY 17
IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 19
IMMUNODEFICIENCY 20
IMMUNODEFICIENCY 21
Immunodeficiency 22
IMMUNODEFICIENCY 23
IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 25
Immunodeficiency 26 with or without neurologic abnormalities
IMMUNODEFICIENCY 27A
Immunodeficiency 27b
IMMUNODEFICIENCY 28
Immunodeficiency 29
IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31C
IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 33
IMMUNODEFICIENCY 34
IMMUNODEFICIENCY 35
Immunodeficiency 36
IMMUNODEFICIENCY 37
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 39
IMMUNODEFICIENCY 40
IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 43
IMMUNODEFICIENCY 44
IMMUNODEFICIENCY 45
Immunodeficiency 46
IMMUNODEFICIENCY 47
IMMUNODEFICIENCY 48
IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 51
IMMUNODEFICIENCY 52
IMMUNODEFICIENCY 53
IMMUNODEFICIENCY 54
IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 56
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
IMMUNODEFICIENCY 58
IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
IMMUNODEFICIENCY 60
IMMUNODEFICIENCY 61
IMMUNODEFICIENCY 62
IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
IMMUNODEFICIENCY 64
IMMUNODEFICIENCY 65 SUSCEPTIBILITY TO VIRAL INFECTIONS
IMMUNODEFICIENCY 66
IMMUNODEFICIENCY 67
IMMUNODEFICIENCY 68
IMMUNODEFICIENCY 69
IMMUNODEFICIENCY 70
IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND ...
IMMUNODEFICIENCY 74 COVID19-RELATED X-LINKED
Immunodeficiency 8
IMMUNODEFICIENCY 9
Immunodeficiency by defective expression of MHC class I
Immunodeficiency by defective expression of MHC class II
IMMUNODEFICIENCY COMMON VARIABLE 1
IMMUNODEFICIENCY COMMON VARIABLE 10
IMMUNODEFICIENCY COMMON VARIABLE 11
Immunodeficiency common variable 12
IMMUNODEFICIENCY COMMON VARIABLE 13
IMMUNODEFICIENCY COMMON VARIABLE 14
IMMUNODEFICIENCY COMMON VARIABLE 2
IMMUNODEFICIENCY COMMON VARIABLE 3
IMMUNODEFICIENCY COMMON VARIABLE 4
IMMUNODEFICIENCY COMMON VARIABLE 5
IMMUNODEFICIENCY COMMON VARIABLE 6
IMMUNODEFICIENCY COMMON VARIABLE 7
IMMUNODEFICIENCY COMMON VARIABLE 8 WITH AUTOIMMUNITY
IMMUNODEFICIENCY DEVELOPMENTAL DELAY AND HYPOHOMOCYSTEINEMIA
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to a late component of complement deficiency
Immunodeficiency due to CD25 deficiency
IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency due to MASP-2 deficiency
IMMUNODEFICIENCY WITH CLEFT LIP/PALATE CATARACT HYPOPIGMENTATION AND ABSENT ...
Immunodeficiency with factor H anomaly
Immunodeficiency with factor I anomaly
IMMUNODEFICIENCY WITH HYPER-IgM TYPE 1
IMMUNODEFICIENCY WITH HYPER-IgM TYPE 2
IMMUNODEFICIENCY WITH HYPER-IgM TYPE 3
IMMUNODEFICIENCY WITH HYPER-IgM TYPE 5
Immunodeficiency X-Linked with magnesium defect Epstein-Barr virus infection ...
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODYSREGULATION POLYENDOCRINOPATHY AND ENTEROPATHY X-LINKED
Immunoglobulin A deficiency 2
Immunoglobulin-mediated membranoproliferative glomerulonephritis
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
Impaired Cilia Orientation and Mucociliary Clearance
IMPDH2 ENZYME ACTIVITY VARIATION IN
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT DEMENTIA ...
Inclusion body myopathy with early-onset paget disease with or without dementia ...
Inclusion body myopathy with early-onset paget disease with or without dementia ...
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Incontinentia pigmenti
Increased analgesia from kappa-opioid receptor agonist female-specific
Indifference to pain congenital autosomal recessive
Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Infant acute respiratory distress syndrome
Infantile ataxia with oculomotor and pyramidal signs
Infantile Bartter syndrome with sensorineural deafness
INFANTILE CATARACT SKIN ABNORMALITIES GLUTAMATE EXCESS AND IMPAIRED DEVELOPMENT ...
Infantile cerebellar-retinal degeneration
Infantile cerebral and cerebellar atrophy with postnatal progressive ...
Infantile convulsions and choreoathetosis
Infantile dystonia-parkinsonism
Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
Infantile Epilepsy Cataracts and Profound Developmental Delay
INFANTILE EPILEPTIC ENCEPHALOPATHY
INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY
Infantile epileptic-dyskinetic encephalopathy
Infantile glycine encephalopathy
Infantile hypertrophic cardiomyopathy and lactic acidosis
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypertrophic cardiomyopathy lactic acidosis and isolated complex I ...
Infantile hypophosphatasia
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental ...
Infantile inflammatory bowel disease with neurological involvement
Infantile Krabbe disease
INFANTILE LIVER FAILURE SYNDROME 1
INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 3
Infantile multisystem neurologic-endocrine-pancreatic disease
Infantile myofibromatosis
Infantile nephronophthisis
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Infantile nephropathic cystinosis
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy 1
Infantile onset spinocerebellar ataxia
Infantile osteopetrosis with neuroaxonal dysplasia
Infantile Refsum disease
INFANTILE SIALIC ACID STORAGE DISEASE
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ...
INFANTILE STRIATONIGRAL DEGENERATION
INFANTILE SYSTEMIC HYALINOSIS
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset generalized dyskinesia with orofacial involvement
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
infantile-onset severe developmental delay and skeletal dysplasia
Infantile-onset X-linked spinal muscular atrophy
INFECTIONS RECURRENT WITH ENCEPHALOPATHY HEPATIC DYSFUNCTION AND CARDIOVASCULAR ...
INFLAMMATORY BOWEL DISEASE 13
INFLAMMATORY BOWEL DISEASE 14
INFLAMMATORY BOWEL DISEASE 17
INFLAMMATORY BOWEL DISEASE 25 AUTOSOMAL RECESSIVE
INFLAMMATORY BOWEL DISEASE 28 AUTOSOMAL RECESSIVE
INFLAMMATORY BOWEL DISEASE 29
INFLAMMATORY BOWEL DISEASE CROHN DISEASE 1
INFLAMMATORY BOWEL DISEASE CROHN DISEASE 10
INFLAMMATORY BOWEL DISEASE CROHN DISEASE 19
INFLAMMATORY BOWEL DISEASE CROHN DISEASE 30
INFLAMMATORY BOWEL DISEASE IMMUNODEFICIENCY AND ENCEPHALOPATHY
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Inflammatory myofibroblastic tumor
INFLAMMATORY SKIN AND BOWEL DISEASE NEONATAL 1
INFLAMMATORY SKIN AND BOWEL DISEASE NEONATAL 2
INFLUENZA SEVERE SUSCEPTIBILITY TO
Inherited acute myeloid leukemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Inherited congenital spastic tetraplegia
Inherited Creutzfeldt-Jakob disease
Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic ...
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Inherited Skin Fragility
INOSINE TRIPHOSPHATASE DEFICIENCY
INSENSITIVITY TO PAIN CONGENITAL WITH ANHIDROSIS
INSULIN RECEPTOR SUBSTRATE 1
INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
INSULIN-LIKE GROWTH FACTOR I RESISTANCE TO
INSULIN-LIKE GROWTH FACTOR I RESISTANCE TO biallelic
Insulin-resistance syndrome type A
Insulinoma
INSULINOMATOSIS AND DIABETES MELLITUS
INTELLECTUAL DEVELOPMENTAL DISORDER 59
INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER 61
INTELLECTUAL DEVELOPMENTAL DISORDER 62
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 44 WITH MICROCEPHALY
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 63 WITH MACROCEPHALY
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 67
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 68
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 69
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 71
INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 72
INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR MICROCEPHALY AND ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND WITH OR ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
Intellectual developmental disorder with cardiac defects and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES SEIZURES AND DISTAL ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY BEHAVIORAL ABNORMALITIES AND ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY SEIZURES AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH DYSMORPHIC FACIES AND ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT OR ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE FACIALANOMALIES AND ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AUTISM AND DYSMORPHIC ...
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY DYSMORPHIC FACIES AND ...
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 108
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC ARMFIELD TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC HACKMANN-DI DONATO TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC LUJAN-FRYNS TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC RAYMOND TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC SNIJDERS BLOK TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC WU TYPE
Intellectual disability
Intellectual Disability Accompanied by Epilepsy and Autistic Features
Intellectual Disability and Central Nervous System anomalies
Intellectual disability and epilepsy
Intellectual disability and iris abnormalities
Intellectual Disability Ataxia and Facial Dysmorphism
Intellectual disability Birk-Barel type
Intellectual Disability Central Nervous System anomalies and Scoliosis
Intellectual Disability Central Nervous System anomalies and Seizures
Intellectual Disability Congenital Malformations and Failure to Thrive
Intellectual Disability Developmental Delay and Short Stature
Intellectual disability encephalopathy impaired GPI-anchor maturation
Intellectual Disability Seizures Abnormal Gait and Distinctive Facial Features
Intellectual Disability Syndrome Associated with Seizures and Dysmorphic ...
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability with ataxia/spasticity
Intellectual disability with autism spectrum disorder
Intellectual Disability with Cerebellar Atrophy
Intellectual disability with epilepsy
Intellectual disability with facial dysmorphism
Intellectual Disability with or without Epileptic Encephalopathy
Intellectual Disability with or without Epileptic Encephalopathy activating
Intellectual disability with pigmentary mosaicism and storage disorder
Intellectual Disability with Seizures
Intellectual Disability with Seizures and Hypotonia
Intellectual Disability with Speech Delay Microcephaly Short Stature and ...
Intellectual Disability with Variable Brain Anomalies
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 ...
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies ...
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Intellectual disability-strabismus syndrome
Intellectual disabiltiy
INTERLEUKIN 6 SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS
Intermediate DEND syndrome
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Intermediate maple syrup urine disease
Intermediate nemaline myopathy
Intermediate osteopetrosis
Intermediate severe Salla disease
Intermittent hydrarthrosis
Intermittent maple syrup urine disease
INTERSTITIAL LUNG AND LIVER DISEASE
Interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease nephrotic syndrome and epidermolysis bullosa ...
INTERSTITIAL NEPHRITIS KARYOMEGALIC
INTERVERTEBRAL DISC DISEASE
INTESTINAL ATRESIA MULTIPLE
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Intrahepatic cholestasis of pregnancy
Intraosseous Vascular Malformation
Intrauterine growth restriction-short stature-early adult-onset diabetes ...
Intrauterine growth retardation metaphyseal dysplasia adrenal hypoplasia and ...
INTRAUTERINE GROWTH RETARDATION METAPHYSEAL DYSPLASIA ADRENAL HYPOPLASIA AND ...
Intravascular large B-cell lymphoma
INTRINSIC FACTOR DEFICIENCY
IPEX Syndrome
IRIDA syndrome
IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Ischio-vertebral syndrome
ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIALHYPERTENSION
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
Isolated anencephaly
Isolated aniridia
Isolated Arhinia/Bosma Arhinia syndrome
Isolated asymptomatic elevation of creatine phosphokinase
Isolated ATP synthase deficiency
Isolated autosomal dominant hypomagnesemia Glaudemans type
Isolated Biliary atresia
Isolated bone marrow mastocytosis
Isolated brachycephaly
Isolated cleft lip
Isolated cloverleaf skull syndrome
Isolated complex I deficiency
Isolated complex III deficiency
Isolated congenital adermatoglyphia
Isolated congenital anosmia
Isolated congenital breast hypoplasia/aplasia
Isolated congenital digital clubbing
Isolated congenital megalocornea
Isolated congenital sclerocornea
Isolated congenitally uncorrected transposition of the great arteries
Isolated cytochrome C oxidase deficiency
Isolated Dandy-Walker malformation
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Isolated delta-storage pool disease
ISOLATED ECTOPIA LENTIS
Isolated exencephaly
Isolated focal cortical dysplasia type Ia
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated focal non-epidermolytic palmoplantar keratoderma
Isolated follicle-stimulating hormone deficiency
Isolated generalized anhidrosis with normal sweat glands
Isolated growth hormone deficiency type IA
ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB
Isolated growth hormone deficiency type II
ISOLATED GROWTH HORMONE DEFICIENCY TYPE III WITH AGAMMAGLOBULINEMIA
ISOLATED GROWTH HORMONE DEFICIENCY TYPE IV
ISOLATED GROWTH HORMONE DEFICIENCY TYPE V
Isolated hemihyperplasia
Isolated hyperchlorhidrosis
Isolated Klippel-Feil syndrome
Isolated megalencephaly
Isolated microphthalmia-anophthalmia-coloboma
Isolated neonatal sclerosing cholangitis
Isolated Nonsyndromic Patent Ductus Arteriosus.
Isolated optic nerve hypoplasia/aplasia
Isolated osteopoikilosis
Isolated oxycephaly
Isolated Pierre Robin syndrome
Isolated plagiocephaly
Isolated polycystic liver disease
Isolated scaphocephaly
Isolated sedoheptulokinase deficiency
Isolated split hand-split foot malformation
Isolated succinate-CoQ reductase deficiency
Isolated sulfite oxidase deficiency
Isolated thyroid-stimulating hormone deficiency
Isolated thyrotropin-releasing hormone deficiency
Isolated trigonocephaly
ISOVALERIC ACIDEMIA
ISPD-related limb-girdle muscular dystrophy R20
ITPA-related lethal infantile neurological disorder with cataract and cardiac ...
IVIC SYNDROME
JABERI-ELAHI SYNDROME
JACKSON-WEISS SYNDROME
Jacobsen syndrome
JALILI SYNDROME
JANSEN METAPHYSEAL CHONDRODYSPLASIA
JANSEN-DE VRIES SYNDROME
JARID2-related Neurodevelopmental Disorder
JAWAD SYNDROME
JENSEN SYNDROME
Jervell and Lange-Nielsen syndrome
JERVELL AND LANGE-NIELSEN SYNDROME 1
JERVELL AND LANGE-NIELSEN SYNDROME 2
Jervell and Lange-Nielsen syndrome type 1
Jervell and Lange-Nielsen syndrome type 2
Jeune syndrome
JOHANSON-BLIZZARD SYNDROME
JOINT LAXITY SHORT STATURE AND MYOPIA
Joubert Syndrome
JOUBERT SYNDROME 1
JOUBERT SYNDROME 10
JOUBERT SYNDROME 13
JOUBERT SYNDROME 14
Joubert syndrome 15
JOUBERT SYNDROME 16
JOUBERT SYNDROME 17
JOUBERT SYNDROME 18
Joubert syndrome 2
JOUBERT SYNDROME 20
JOUBERT SYNDROME 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
JOUBERT SYNDROME 27
JOUBERT SYNDROME 28
JOUBERT SYNDROME 3
Joubert syndrome 30
JOUBERT SYNDROME 31
JOUBERT SYNDROME 32
JOUBERT SYNDROME 33
JOUBERT SYNDROME 35
JOUBERT SYNDROME 36
JOUBERT SYNDROME 4
JOUBERT SYNDROME 5
JOUBERT SYNDROME 6
JOUBERT SYNDROME 7
JOUBERT SYNDROME 8
JOUBERT SYNDROME 9
Joubert Syndrome and Related Disorders
JOUBERT SYNDROME TYPE 1
JOUBERT SYNDROME TYPE 10
JOUBERT SYNDROME TYPE 5
Joubert Syndrome with Cranio-facial and Skeletal Defects
Joubert syndrome with hepatic defect
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
Joubert syndrome with renal defect
Juberg-Marsidi syndrome
Junctional epidermolysis bullosa generalized intermediate
Junctional epidermolysis bullosa generalized severe
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa with respiratory and renal involvement
Junctional epidermolysis bullosa-pyloric atresia syndrome
Juvenile absence epilepsy
Juvenile amyotrophic lateral sclerosis
JUVENILE ARTHRITIS
Juvenile cataract-microcornea-renal glucosuria syndrome
Juvenile glaucoma
Juvenile Huntington disease
JUVENILE HYALINE FIBROMATOSIS
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Juvenile nephronophthisis
Juvenile nephropathic cystinosis
Juvenile or adult CACH syndrome
Juvenile Paget disease
Juvenile polyposis of infancy
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile primary lateral sclerosis
Juvenile sialidosis type 2
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration ...
Kabuki syndrome
KABUKI SYNDROME 1
KABUKI SYNDROME 2
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
KAHRIZI SYNDROME
KALLIKREIN DECREASED URINARY ACTIVITY OF
Kallmann Syndrome
KANZAKI DISEASE
KAPOSI SARCOMA SUSCEPTIBILITY TO
Kaposiform hemangioendothelioma
Karyomegalic interstitial nephritis
KAT5-related Neurodevelopmental Syndrome
KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS
KAUFMAN OCULOCEREBROFACIAL SYNDROME
KBG syndrome
KCN4 related abnormal striatum congenital cataract and intellectual disability.
KCND3-related developmental disorder monoallelic
KCNK3-related developmental disorder monoallelic
KCNQ2-related epileptic encephalopathy
KCNQ3 syndrome
KDELR2-related Osteogenesis Imperfecta
KDM4B-related Developmental Disorder
KDM6B-related developmental disorder monoallelic
KEARNS-SAYRE SYNDROME
Keipert syndrome
Kennedy disease
KENNY-CAFFEY SYNDROME
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Keppen-Lubinsky syndrome
KERATITIS HEREDITARY
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL DOMINANT
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL RECESSIVE
KERATOCONUS 1
KERATOCONUS 9
KERATOCONUS WITH CATARACT
Keratoderma hereditarium mutilans
Keratoderma hereditarium mutilans with ichthyosis
KERATODERMA PALMOPLANTAR WITH DEAFNESS
KERATOENDOTHELIITIS FUGAX HEREDITARIA
Keratolytic winter erythema
Keratosis follicularis spinulosa decalvans
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS X-LINKED
KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA III
KERATOSIS PILARIS ATROPHICANS
KERATOSIS SEBORRHEIC
Ketoacidosis due to monocarboxylate transporter-1 deficiency
Keutel syndrome
KHAN-KHAN-KATSANIS SYNDROME
KIAA2022
KID syndrome
KIDINS220-related Developmental Disorder biallelic
KIF3B-related ciliopathy
KILQUIST SYNDROME
Kindler epidermolysis bullosa
KINDLER SYNDROME
King Denborough syndrome
Kleefstra syndrome
KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 2
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
KLF7-related developmental disorder
KLHL9-related early-onset distal myopathy
Klippel-Feil Anomaly
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
KLIPPEL-FEIL SYNDROME 1 AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 2 AUTOSOMAL RECESSIVE
KLIPPEL-FEIL SYNDROME 3 AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 4 AUTOSOMAL RECESSIVE WITH NEMALINE MYOPATHY AND FACIAL ...
Klippel-Trenaunay syndrome
KMT2D multiple malformations disorder
KMT5B syndrome
KNIEST DYSPLASIA
Knobloch syndrome
KNOBLOCH SYNDROME 1
Knobloch Syndrome Type I
KNOPS BLOOD GROUP SYSTEM
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis ...
Kohlschutter-Tonz Syndrome
Koolen-de Vries syndrome
Koolen-De Vries syndrome due to a point mutation
Kosaki overgrowth syndrome
Kostmann syndrome
KOWARSKI SYNDROME
KRABBE DISEASE
KRABBE DISEASE ATYPICAL DUE TO SAPOSIN A DEFICIENCY
KRT1-related diffuse nonepidermolytic keratoderma
KUFOR-RAKEB SYNDROME
Kuru
KURU SUSCEPTIBILITY TO
Kuskokwim syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
L-2-HYDROXYGLUTARIC ACIDURIA
L-Arginine:glycine amidinotransferase deficiency
L-FERRITIN DEFICIENCY
Lacrimal duct defect
LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
LACRIMOAURICULODENTODIGITAL SYNDROME
LACTASE DEFICIENCY CONGENITAL
LACTATE DEHYDROGENASE B DEFICIENCY
Lacticacidemia due to PDX1 deficiency
LACTOSE INTOLERANCE ADULT TYPE
LADD SYNDROME
Lafora disease
Laing early-onset distal myopathy
LAMA5-related multisystemic syndrome
Lamb-shaffer syndrome
Lamellar ichthyosis
Laminin subunit alpha 2-related congenital muscular dystrophy
Landau-Kleffner syndrome
LANGER MESOMELIC DYSPLASIA
Langerhans cell histiocytosis
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE WITH OR ...
Large congenital melanocytic nevus
LARON SYNDROME
Laron syndrome with immunodeficiency
LARSEN SYNDROME
Larsen-like syndrome B3GAT3 type
LARYNGOONYCHOCUTANEOUS SYNDROME
Late infantile CACH syndrome
Late-infantile/juvenile Krabbe disease
Late-onset distal myopathy Markesbery-Griggs type
Late-onset junctional epidermolysis bullosa
Late-onset nephronophthisis
Late-onset retinal degeneration
Lateral meningocele syndrome
Laterality defects
LATHOSTEROLOSIS
Lattice corneal dystrophy Type I
Laurence-Moon syndrome
Laurin-Sandrow syndrome
Leber congenital amaurosis
LEBER CONGENITAL AMAUROSIS 1
LEBER CONGENITAL AMAUROSIS 10
LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 12
LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 14
LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 16
Leber congenital amaurosis 17
LEBER CONGENITAL AMAUROSIS 19
Leber congenital amaurosis 2
LEBER CONGENITAL AMAUROSIS 3
LEBER CONGENITAL AMAUROSIS 4
LEBER CONGENITAL AMAUROSIS 5
LEBER CONGENITAL AMAUROSIS 6
LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 9
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
Leber hereditary optic neuropathy
LEBER OPTIC ATROPHY
Leber plus disease
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Left ventricular noncompaction
LEFT VENTRICULAR NONCOMPACTION 1
Left ventricular noncompaction 10
LEFT VENTRICULAR NONCOMPACTION 7
LEFT VENTRICULAR NONCOMPACTION 8
LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
Legg-Calve-Perthes disease
LEGIONNAIRE DISEASE SUSCEPTIBILITY TO
LEGIUS SYNDROME
Leigh syndrome
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
LEIGH SYNDROME DUP
LEIGH SYNDROME FRENCH CANADIAN TYPE
Leigh syndrome with cardiomyopathy
Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate ...
Lennox-Gastaut syndrome
Lenz-Majewski hyperostotic dwarfism
LEOPARD syndrome 1
LEOPARD SYNDROME 2
LEOPARD SYNDROME 3
LEOPARD syndrome type 1
Leprechaunism
LEPROSY SUSCEPTIBILITY TO 3
LEPROSY SUSCEPTIBILITY TO 4
LEPROSY SUSCEPTIBILITY TO 5
LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN RECEPTOR DEFICIENCY
Leri-Weill dyschondrosteosis
LESCH-NYHAN SYNDROME
LESSEL-KUBISCH SYNDROME
Lethal acantholytic erosive disorder
Lethal arteriopathy syndrome due to Fibulin-4 deficiency
Lethal arthroogryposis
Lethal ataxia with deafness and optic atrophy
Lethal brain and heart developmental defects
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 10
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
LETHAL CONGENITAL CONTRACTURE SYNDROME 2
LETHAL CONGENITAL CONTRACTURE SYNDROME 3
LETHAL CONGENITAL CONTRACTURE SYNDROME 4
Lethal congenital contracture syndrome 5
Lethal congenital contracture syndrome 6
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Lethal congenital contracture syndrome type 1
lethal congenital contracture syndrome type 2
lethal congenital contracture syndrome type 3
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia ...
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Lethal Infantile Epileptic Encephalopathy
Lethal infantile mitochondrial myopathy
Lethal intrauterine growth restriction-cortical malformation-congenital ...
Lethal left ventricular delay syndrome ...
Lethal multiple pterygium syndrome
Lethal neonatal rigidity and seizure syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Lethal Neurometabolic Disorder of Early Childhood
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal osteosclerotic bone dysplasia
Lethal polymalformative syndrome Boissel type
Lethal Restrictive Dermopathy ZMPSTE24-Related
Letrozole toxicity
LEUKEMIA ACUTE LYMPHOBLASTIC
Leukemia acute lymphoblastic susceptibility to 3
LEUKEMIA ACUTE MYELOID
LEUKEMIA CHRONIC MYELOID
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type II
Leukocyte adhesion deficiency type III
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
LEUKODYSTROPHY DEMYELINATING ADULT-ONSET AUTOSOMAL DOMINANT
LEUKODYSTROPHY HYPOMYELINATING 10
LEUKODYSTROPHY HYPOMYELINATING 11
Leukodystrophy hypomyelinating 12
LEUKODYSTROPHY HYPOMYELINATING 13
LEUKODYSTROPHY HYPOMYELINATING 14
LEUKODYSTROPHY HYPOMYELINATING 15
LEUKODYSTROPHY HYPOMYELINATING 16
LEUKODYSTROPHY HYPOMYELINATING 17
LEUKODYSTROPHY HYPOMYELINATING 18
LEUKODYSTROPHY HYPOMYELINATING 19 TRANSIENT INFANTILE
LEUKODYSTROPHY HYPOMYELINATING 2
LEUKODYSTROPHY HYPOMYELINATING 20
LEUKODYSTROPHY HYPOMYELINATING 3
LEUKODYSTROPHY HYPOMYELINATING 4
LEUKODYSTROPHY HYPOMYELINATING 5
LEUKODYSTROPHY HYPOMYELINATING 6
LEUKODYSTROPHY HYPOMYELINATING 7 WITH OR WITHOUT OLIGODONTIAAND/OR HYPOGONADISM ...
LEUKODYSTROPHY HYPOMYELINATING 8 WITH OR WITHOUT OLIGODONTIAAND/OR HYPOGONADISM ...
LEUKODYSTROPHY HYPOMYELINATING 9
LEUKODYSTROPHY HYPOMYELINATING TYPE 1
LEUKODYSTROPHY HYPOMYELINATING TYPE 4
LEUKODYSTROPHY HYPOMYELINATING TYPE 5
LEUKODYSTROPHY PROGRESSIVE EARLY CHILDHOOD-ONSET
LEUKOENCEPHALOPATHY ACUTE REVERSIBLE WITH INCREASED URINARY ALPHA-KETOGLUTARATE
LEUKOENCEPHALOPATHY BRAIN CALCIFICATIONS AND CYSTS
LEUKOENCEPHALOPATHY CYSTIC WITHOUT MEGALENCEPHALY
LEUKOENCEPHALOPATHY DEVELOPMENTAL DELAY AND EPISODIC NEUROLOGIC REGRESSION ...
LEUKOENCEPHALOPATHY HEREDITARY DIFFUSE WITH SPHEROIDS
LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS
LEUKOENCEPHALOPATHY MOTOR DELAY SPASTICITY AND DYSARTHRIA SYNDROME
LEUKOENCEPHALOPATHY PROGRESSIVE WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY WITH ATAXIA
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate ...
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ...
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with cerebral calcification and cysts
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukonychia totalis
LEUKOTRIENE C4 SYNTHASE DEFICIENCY
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to LHB deficiency
Leydig cell hypoplasia due to partial LH resistance
LEYDIG CELL HYPOPLASIA TYPE I
LHERMITTE-DUCLOS DISEASE
LHX4-Related Combined Pituitary Hormone Deficiency
Li-Fraumeni syndrome
LI-FRAUMENI SYNDROME 2
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
LIANG-WANG SYNDROME
LIBERFARB SYNDROME
Lichtenstein-Knorr syndrome
LIDDLE SYNDROME
LIDDLE SYNDROME 1
LIDDLE SYNDROME 2
LIDDLE SYNDROME 3
LIEBENBERG SYNDROME
LIG4 SYNDROME
Limb-girdle muscular dystrophy due to POMK deficiency
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L
LIMB-MAMMARY SYNDROME
Limbic encephalitis with LGI1 antibodies
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
LIMS2-related limb-girdle muscular dystrophy
Linear nevus sebaceus syndrome
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
LINGO1 related intellectual disability with microcephaly speech and motor delay
Lipase deficiency combined
LIPE-related familial partial lipodystrophy
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1
LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 2
LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 3
LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 4
LIPODYSTROPHY FAMILIAL PARTIAL TYPE 2
LIPODYSTROPHY FAMILIAL PARTIAL TYPE 3
LIPODYSTROPHY FAMILIAL PARTIAL TYPE 4
LIPODYSTROPHY FAMILIAL PARTIAL TYPE 5
LIPODYSTROPHY FAMILIAL PARTIAL TYPE 6
LIPODYSTROPHY FAMILIAL PARTIAL TYPE 7
LIPODYSTROPHY PARTIAL ACQUIRED SUSCEPTIBILITY TO
Lipoic acid synthetase deficiency
LIPOID CONGENITAL ADRENAL HYPERPLASIA
Lipoid proteinosis
LIPOID PROTEINOSIS OF URBACH AND WIETHE
LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEINa QUANTITATIVE TRAIT LOCUS
Lipoyl transferase 2 deficiency
LIPOYLTRANSFERASE 1 DEFICIENCY
LISSENCEPHALY 1
LISSENCEPHALY 10
Lissencephaly 2
LISSENCEPHALY 3
Lissencephaly 4
LISSENCEPHALY 5
Lissencephaly 6 with microcephaly
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
LISSENCEPHALY 8
LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly Subcortical Heterotopia and Global Developmental Delay
Lissencephaly syndrome Norman-Roberts type
LISSENCEPHALY TYPE 1
Lissencephaly type 1 due to doublecortin gene mutation
LISSENCEPHALY TYPE 3
LISSENCEPHALY X-LINKED 1
LISSENCEPHALY X-LINKED 2
LISSENCEPHALY X-LINKED TYPE 1
LIVER FAILURE INFANTILE TRANSIENT
LMNA-related cardiocutaneous progeria syndrome
LMNB1-associated developmental disorder
LMNB2-related Primary Microcephaly
Lobar holoprosencephaly
LOC syndrome
Localized epidermolysis bullosa simplex
Localized junctional epidermolysis bullosa non-Herlitz type
Loeys-Dietz syndrome
LOEYS-DIETZ SYNDROME 1
LOEYS-DIETZ SYNDROME 2
LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 5
LOEYS-DIETZ SYNDROME TYPE 4
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LONG QT SYNDROME 1
LONG QT SYNDROME 10
LONG QT SYNDROME 11
LONG QT SYNDROME 12
Long QT syndrome 13
LONG QT SYNDROME 14
LONG QT SYNDROME 15
LONG QT SYNDROME 16
LONG QT SYNDROME 2
LONG QT SYNDROME 3
LONG QT SYNDROME 5
LONG QT SYNDROME 6
Long QT syndrome 8
LONG QT SYNDROME 9
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
LOPES-MACIEL-RODAN SYNDROME
Low density lipoprotein cholesterol level quantitative trait locus 6
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
Low isolated anorectal malformation
Low phospholipid associated cholelithiasis
LOWE OCULOCEREBRORENAL SYNDROME
Lower motor neuron syndrome with late-adult onset
LOWER URINARY TRACT OBSTRUCTION CONGENITAL
Lowry-Wood syndrome
LRP5-related primary osteoporosis
LUBS X-LINKED MENTAL RETARDATION SYNDROME
LUJAN-FRYNS SYNDROME
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
LUNG DISEASE IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME
LUSCAN-LUMISH SYNDROME
LUTHERAN NULL
LYMPHANGIOLEIOMYOMATOSIS
LYMPHATIC MALFORMATION 1
LYMPHATIC MALFORMATION 3
LYMPHATIC MALFORMATION 4
LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 7
LYMPHATIC MALFORMATION 8
Lymphedema hereditary ic
LYMPHEDEMA PRIMARY WITH MYELODYSPLASIA
LYMPHEDEMA-DISTICHIASIS SYNDROME
Lymphedema-posterior choanal atresia syndrome
LYMPHOID ENHANCER-BINDING FACTOR 1
LYMPHOMA HODGKIN CLASSIC
LYMPHOMA MUCOSA-ASSOCIATED LYMPHOID TYPE
Lymphomatoid papulosis
LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 3
LYMPHOPROLIFERATIVE SYNDROME X-LINKED 1
LYMPHOPROLIFERATIVE SYNDROME X-LINKED 2
Lynch syndrome
Lynch syndrome I
LYSINURIC PROTEIN INTOLERANCE
Lysosomal acid lipase deficiency
LYSOSOMAL ALPHA-MANNOSIDOSIS
LYSOSOMAL BETA-MANNOSIDOSIS
LYSYL HYDROXYLASE 3 DEFICIENCY
MACHADO-JOSEPH DISEASE
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT
MACROCEPHALY ALOPECIA CUTIS LAXA AND SCOLIOSIS TALL FOREHEAD SPARSE HAIR SKIN ...
Macrocephaly and impaired speech and language
MACROCEPHALY DYSMORPHIC FACIES AND PSYCHOMOTOR RETARDATION
Macrocephaly macrosomia facial dysmorphism syndrome
Macrocephaly Neurodevelopmental Delay and Seizures
Macrocephaly with intellectual disability
Macrocephaly-developmental delay syndrome
Macrocephaly-intellectual disability-autism syndrome
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax ...
MACROCEPHALY/AUTISM SYNDROME
Macrocephaly/megalencephaly syndrome autosomal recessive
MACRODACTYLY
Macrodactyly of fingers unilateral
Macrodactyly of toes unilateral
MACROGLOBULINEMIA WALDENSTROM SUSCEPTIBILITY TO 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or ...
MACROTHROMBOCYTOPENIA AUTOSOMAL DOMINANT TUBB1-RELATED
Macrothrombocytopenia-lymphedema-developmental delay-facial syndrome ...
MACS syndrome
Macular corneal dystrophy
MACULAR DEGENERATION AGE-RELATED 1
MACULAR DEGENERATION AGE-RELATED 11
MACULAR DEGENERATION AGE-RELATED 12
MACULAR DEGENERATION AGE-RELATED 13
MACULAR DEGENERATION AGE-RELATED 14
MACULAR DEGENERATION AGE-RELATED 15
MACULAR DEGENERATION AGE-RELATED 2
MACULAR DEGENERATION AGE-RELATED 4
MACULAR DEGENERATION AGE-RELATED 5
MACULAR DEGENERATION AGE-RELATED 6
MACULAR DEGENERATION AGE-RELATED 7
MACULAR DEGENERATION AGE-RELATED 8
MACULAR DEGENERATION AGE-RELATED 9
MACULAR DEGENERATION EARLY-ONSET
MACULAR DEGENERATION X-LINKED ATROPHIC
MACULAR DYSTROPHY CORNEAL
MACULAR DYSTROPHY PATTERNED 1
MACULAR DYSTROPHY PATTERNED 2
MACULAR DYSTROPHY PATTERNED 3
MACULAR DYSTROPHY RETINAL 2
MACULAR DYSTROPHY VITELLIFORM 2
MACULAR DYSTROPHY VITELLIFORM 3
MACULAR DYSTROPHY VITELLIFORM 4
MACULAR DYSTROPHY VITELLIFORM 5
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MADD-related developmental disorder
Maffucci syndrome
MAGEL2-related Prader-Willi-like syndrome
Mainzer-Saldino Syndrome
MAJEED SYNDROME
MAJOR AFFECTIVE DISORDER 7
MAJOR DEPRESSIVE DISORDER
MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I B
MAL DE MELEDA
Malan overgrowth syndrome
MALARIA MILD SUSCEPTIBILITY TO
MALARIA SUSCEPTIBILITY TO MALARIA RESISTANCE TO INCLUDED
Malate-Aspartate Shuttle-Related Encephalopathy
Male infertility due to acephalic spermatozoa
Male infertility due to globozoospermia
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation
MALEYLACETOACETATE ISOMERASE DEFICIENCY
Malformations of cortical development and microcephaly.
Maligant granulosa cell tumor of the ovary
Malignant epithelial tumor of salivary glands
Malignant hyperthermia of anesthesia
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TO 1
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TO 5
Malignant migrating focal seizures of infancy
Malignant migrating partial seizures of infancy
Malignant peripheral nerve sheath tumor
Malignant Sertoli-Leydig cell tumor of the ovary
Malonic aciduria
MALONYL-CoA DECARBOXYLASE DEFICIENCY
MALT lymphoma
MAN1B1-CDG
Mandibular hypoplasia deafness progeroid features and lipodystrophy syndrome
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOFACIAL DYSOSTOSIS GUION-ALMEIDA TYPE
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
Mandibulofacial dysostosis-microcephaly syndrome
Manitoba oculotrichoanal syndrome
MANNOSE-BINDING LECTIN DEFICIENCY
MANNOSIDOSIS ALPHA B LYSOSOMAL
MANNOSIDOSIS BETA A LYSOSOMAL
MANTLE CELL LYMPHOMA
MAPK1-related Neurodevelopmental Disorder
Maple Syrup Urine Disease
MAPLE SYRUP URINE DISEASE MILD VARIANT
Marden-Walker syndrome
Marfan Syndrome
Marfan syndrome type 1
Marfan syndrome type 2
Marfanoid Habitus and Cognitive Impairment
MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
Marie Unna hereditary hypotrichosis
MARINESCO-SJOEGREN SYNDROME
Marinesco-Sjogren syndrome
MARSHALL SYNDROME
MARSHALL-SMITH SYNDROME
MARSILI SYNDROME
Martinez-Frias syndrome
Martinique crinkled retinal pigment epitheliopathy
MARTSOLF SYNDROME
MASA SYNDROME
MASP2 DEFICIENCY
MASS syndrome
MAST SYNDROME
MAST1-related developmental disorder monoallelic
MASTOCYTOSIS CUTANEOUS
Maternal phenylketonuria
Maternal riboflavin deficiency
Maternally inherited diabetes and deafness
Matthew-Wood syndrome
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 10
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 11
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 13
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 14
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 2
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 3
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 4
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 6
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 7
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 8 WITH EXOCRINE DYSFUNCTION
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 9
MAU2 neurodevelopmental disorder
Mazabraud syndrome
McCune-Albright syndrome
McKusick-Kaufman syndrome
McLeod neuroacanthocytosis syndrome
MCLEOD SYNDROME
MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
MEACHAM SYNDROME
Meckel syndrome
Meckel syndrome 12
Meckel syndrome 13
Meckel syndrome 9
MECKEL SYNDROME TYPE 1
MECKEL SYNDROME TYPE 10
Meckel syndrome type 11
MECKEL SYNDROME TYPE 2
MECKEL SYNDROME TYPE 3
MECKEL SYNDROME TYPE 4
MECKEL SYNDROME TYPE 5
MECKEL SYNDROME TYPE 6
MECKEL SYNDROME TYPE 7
MECKEL SYNDROME TYPE 8
MECKEL SYNDROME TYPE 9
Meconium Ileus
MED12-related Developmental Disorder
MED13 - Neurodevelopment disorder
MED27-related neurodevelopmental disorder
Medium chain acyl-CoA dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
MEDNIK syndrome
MEDNIK-like Syndrome
MEDULLARY CYSTIC KIDNEY DISEASE 1
MEDULLARY CYSTIC KIDNEY DISEASE 2
Medulloblastoma
Medulloblastoma with extensive nodularity
MEESMANN CORNEAL DYSTROPHY
MEESTER-LOEYS SYNDROME
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL ...
MEGABLADDER CONGENITAL
Megaconial congenital muscular dystrophy
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Megakaryoblastic acute myeloid leukemia with t1
Megalencephalic leukoencephalopathy with subcortical cysts
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2b remitting with or ...
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-Capillary malformation-Polymicrogyria syndrome somatic 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
MEGALOCORNEA
Megalocornea X-linked
MEGDEL syndrome
MEHMO syndrome
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 7
MEIER-GORLIN SYNDROME 8
Meier-Gorlin Syndrome and Craniosynostosis
MEIS2-related developmental disorder monoallelic
Melanocytic nevus syndrome congenital
Melanoma and neural system tumor syndrome
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 10
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 2
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 3
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 5
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 6
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 8
MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 9
Melanoma of soft tissue
MELANOMA-ASTROCYTOMA SYNDROME
Melanoma-pancreatic cancer syndrome
Melanosis neurocutaneous
MELAS
MELIOIDOSIS SUSCEPTIBILITY TOMELIOIDOSIS RESISTANCE TO INCLUDED
MELNICK-NEEDLES SYNDROME
MELORHEOSTOSIS ISOLATED
Melorheostosis with osteopoikilosis
MEMORY QUANTITATIVE TRAIT LOCUS
MEND syndrome
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 ...
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 ...
Mendelian susceptibility to mycobacterial diseases due to complete IL12B ...
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 ...
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 ...
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 ...
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 ...
Meningioma
MENINGIOMA FAMILIAL SUSCEPTIBILITY TO
Menke-Hennekam syndrome 1
MENKE-HENNEKAM SYNDROME 2
MENKES DISEASE
Menstrual cycle-dependent periodic fever
Mental retardation and distinctive facial features with or without cardiac ...
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation anterior maxillary protrusion and strabismus
Mental retardation autosomal dominant 1
MENTAL RETARDATION AUTOSOMAL DOMINANT 10
MENTAL RETARDATION AUTOSOMAL DOMINANT 11
MENTAL RETARDATION AUTOSOMAL DOMINANT 13
MENTAL RETARDATION AUTOSOMAL DOMINANT 19
MENTAL RETARDATION AUTOSOMAL DOMINANT 20
MENTAL RETARDATION AUTOSOMAL DOMINANT 21
Mental retardation autosomal dominant 22
Mental retardation autosomal dominant 23
Mental retardation autosomal dominant 24
MENTAL RETARDATION AUTOSOMAL DOMINANT 26
MENTAL RETARDATION AUTOSOMAL DOMINANT 27
MENTAL RETARDATION AUTOSOMAL DOMINANT 28
MENTAL RETARDATION AUTOSOMAL DOMINANT 29
MENTAL RETARDATION AUTOSOMAL DOMINANT 3
MENTAL RETARDATION AUTOSOMAL DOMINANT 30
Mental retardation autosomal dominant 31
MENTAL RETARDATION AUTOSOMAL DOMINANT 32
MENTAL RETARDATION AUTOSOMAL DOMINANT 33
MENTAL RETARDATION AUTOSOMAL DOMINANT 34
MENTAL RETARDATION AUTOSOMAL DOMINANT 35
MENTAL RETARDATION AUTOSOMAL DOMINANT 36
MENTAL RETARDATION AUTOSOMAL DOMINANT 38
Mental retardation autosomal dominant 39
MENTAL RETARDATION AUTOSOMAL DOMINANT 40
MENTAL RETARDATION AUTOSOMAL DOMINANT 41
MENTAL RETARDATION AUTOSOMAL DOMINANT 42
MENTAL RETARDATION AUTOSOMAL DOMINANT 43
MENTAL RETARDATION AUTOSOMAL DOMINANT 45
MENTAL RETARDATION AUTOSOMAL DOMINANT 46
MENTAL RETARDATION AUTOSOMAL DOMINANT 47
MENTAL RETARDATION AUTOSOMAL DOMINANT 48
MENTAL RETARDATION AUTOSOMAL DOMINANT 5
MENTAL RETARDATION AUTOSOMAL DOMINANT 50
MENTAL RETARDATION AUTOSOMAL DOMINANT 51
MENTAL RETARDATION AUTOSOMAL DOMINANT 52
MENTAL RETARDATION AUTOSOMAL DOMINANT 53
MENTAL RETARDATION AUTOSOMAL DOMINANT 54
MENTAL RETARDATION AUTOSOMAL DOMINANT 55 WITH SEIZURES
MENTAL RETARDATION AUTOSOMAL DOMINANT 56
MENTAL RETARDATION AUTOSOMAL DOMINANT 57
MENTAL RETARDATION AUTOSOMAL DOMINANT 58
MENTAL RETARDATION AUTOSOMAL DOMINANT 6
MENTAL RETARDATION AUTOSOMAL DOMINANT 6 WITH OR WITHOUT SEIZURES
MENTAL RETARDATION AUTOSOMAL DOMINANT 7
MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3
MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4
MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5
mental retardation autosomal dominant type 7
Mental retardation autosomal recessive 1
MENTAL RETARDATION AUTOSOMAL RECESSIVE 12
MENTAL RETARDATION AUTOSOMAL RECESSIVE 13
MENTAL RETARDATION AUTOSOMAL RECESSIVE 14
MENTAL RETARDATION AUTOSOMAL RECESSIVE 18
MENTAL RETARDATION AUTOSOMAL RECESSIVE 2
Mental retardation autosomal recessive 27
MENTAL RETARDATION AUTOSOMAL RECESSIVE 3
MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY
Mental retardation autosomal recessive 36
MENTAL RETARDATION AUTOSOMAL RECESSIVE 37
Mental retardation autosomal recessive 38
Mental retardation autosomal recessive 39
Mental retardation autosomal recessive 40
MENTAL RETARDATION AUTOSOMAL RECESSIVE 41
Mental retardation autosomal recessive 42
Mental retardation autosomal recessive 43
Mental retardation autosomal recessive 44
Mental retardation autosomal recessive 45
Mental retardation autosomal recessive 46
Mental retardation autosomal recessive 47
MENTAL RETARDATION AUTOSOMAL RECESSIVE 48
MENTAL RETARDATION AUTOSOMAL RECESSIVE 5
MENTAL RETARDATION AUTOSOMAL RECESSIVE 50
Mental retardation autosomal recessive 51
MENTAL RETARDATION AUTOSOMAL RECESSIVE 52
MENTAL RETARDATION AUTOSOMAL RECESSIVE 53
MENTAL RETARDATION AUTOSOMAL RECESSIVE 54
MENTAL RETARDATION AUTOSOMAL RECESSIVE 56
MENTAL RETARDATION AUTOSOMAL RECESSIVE 57
MENTAL RETARDATION AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION AUTOSOMAL RECESSIVE 59
MENTAL RETARDATION AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION AUTOSOMAL RECESSIVE 60
MENTAL RETARDATION AUTOSOMAL RECESSIVE 61
MENTAL RETARDATION AUTOSOMAL RECESSIVE 63
MENTAL RETARDATION AUTOSOMAL RECESSIVE 64
MENTAL RETARDATION AUTOSOMAL RECESSIVE 65
MENTAL RETARDATION AUTOSOMAL RECESSIVE 66
MENTAL RETARDATION AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7
MENTAL RETARDATION ENTEROPATHY DEAFNESS PERIPHERAL NEUROPATHY ICHTHYOSIS AND ...
MENTAL RETARDATION FRA12A TYPE
MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE
MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10
MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
MENTAL RETARDATION TRUNCAL OBESITY RETINAL DYSTROPHY AND MICROPENISSYNDROME
Mental retardation with language impairment and autistic features
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC ...
MENTAL RETARDATION X-LINKED 1
Mental retardation X-linked 100
Mental retardation X-linked 101
MENTAL RETARDATION X-LINKED 102
MENTAL RETARDATION X-LINKED 103
MENTAL RETARDATION X-LINKED 104
MENTAL RETARDATION X-LINKED 105
MENTAL RETARDATION X-LINKED 106
MENTAL RETARDATION X-LINKED 107
MENTAL RETARDATION X-LINKED 12
MENTAL RETARDATION X-LINKED 19
MENTAL RETARDATION X-LINKED 21
MENTAL RETARDATION X-LINKED 3
MENTAL RETARDATION X-LINKED 30
MENTAL RETARDATION X-LINKED 41
MENTAL RETARDATION X-LINKED 58
MENTAL RETARDATION X-LINKED 63
MENTAL RETARDATION X-LINKED 72
MENTAL RETARDATION X-LINKED 9
MENTAL RETARDATION X-LINKED 90
MENTAL RETARDATION X-LINKED 93
MENTAL RETARDATION X-LINKED 96
MENTAL RETARDATION X-LINKED 97
Mental retardation X-linked 98
Mental retardation X-linked 99
MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED
MENTAL RETARDATION X-LINKED ARX-RELATED
MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE FRAXE
MENTAL RETARDATION X-LINKED CASK-RELATED
MENTAL RETARDATION X-LINKED OPHN1-RELATED
MENTAL RETARDATION X-LINKED SYNDROMIC 11
MENTAL RETARDATION X-LINKED SYNDROMIC 13
MENTAL RETARDATION X-LINKED SYNDROMIC 14
MENTAL RETARDATION X-LINKED SYNDROMIC 32
Mental retardation X-linked syndromic 33
MENTAL RETARDATION X-LINKED SYNDROMIC 34
MENTAL RETARDATION X-LINKED SYNDROMIC 35
MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC CABEZAS TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC HEDERA TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC NASCIMENTO TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC SNYDER-ROBINSON TYPE
MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE
MENTAL RETARDATION X-LINKED SYP-RELATED
MENTAL RETARDATION X-LINKED TYPE 1
MENTAL RETARDATION X-LINKED TYPE 21
MENTAL RETARDATION X-LINKED TYPE 30
MENTAL RETARDATION X-LINKED TYPE 41
MENTAL RETARDATION X-LINKED TYPE 44
MENTAL RETARDATION X-LINKED TYPE 46
mental retardation X-linked type 58
MENTAL RETARDATION X-LINKED TYPE 59
MENTAL RETARDATION X-LINKED TYPE 63
Mental retardation x-Linked type 72 (MRX72) +/- parkinsons
MENTAL RETARDATION X-LINKED TYPE 90
MENTAL RETARDATION X-LINKED TYPE 91
MENTAL RETARDATION X-LINKED TYPE 93
MENTAL RETARDATION X-LINKED TYPE 94
MENTAL RETARDATION X-LINKED TYPE 95
MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL ...
MENTAL RETARDATION X-LINKED WITH EPILEPSY
MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY
MENTAL RETARDATION X-LINKED WITH OR WITHOUT SEIZURES ARX-RELATED
MENTAL RETARDATION X-LINKED WITH PANHYPOPITUITARISM MENTAL RETARDATION X-LINKED ...
MENTAL RETARDATION X-LINKED ZNF711-RELATED
MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME X-LINKED 1
MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ...
MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS
MEPAN syndrome
MERRF
Mesoaxial synostotic syndactyly with phalangeal reduction
Mesoaxial synostotic syndactyly with phalangeal reduction malik-Percin type
MESOTHELIOMA MALIGNANT
METABOLIC CRISES RECURRENT WITH RHABDOMYOLYSIS CARDIAC ARRHYTHMIAS AND ...
METABOLIC CRISES RECURRENT WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND ...
Metabolic myopathy due to lactate transporter defect
METACARPAL 4-5 FUSION
Metachondromatosis
METACHROMATIC LEUKODYSTROPHY
Metachromatic leukodystrophy adult form
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
Metachromatic leukodystrophy juvenile form
Metachromatic leukodystrophy late infantile form
Metaphyseal anadysplasia
Metaphyseal anadysplasia 2
METAPHYSEAL ANADYSPLASIA TYPE 1
Metaphyseal chondrodysplasia Jansen type
METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE
Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
METAPHYSEAL DYSPLASIA SPAHR TYPE
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
Metaphyseal dysplasia without hypotrichosis
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
METATROPIC DYSPLASIA
METHEMOGLOBINEMIA ALPHA TYPE
METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
METHEMOGLOBINEMIA BETA TYPE
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
methionine adenosyltransferase deficiency
METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
Methylcobalamin deficiency type cblDv1
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
METHYLCOBALAMIN DEFICIENCY TYPE G
Methylenetetrahydrofolate reductase deficiency
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA cblX TYPE
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic acidemia with homocystinuria type cblX
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblC TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblD TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblF TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
methylmalonic aciduria and homocystinuria type cblF
METHYLMALONIC ACIDURIA cblA TYPE
METHYLMALONIC ACIDURIA cblB TYPE
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA TRANSIENT DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
methylmalonic aciduria type cblA
Methylmalonic aciduria type cblB
methylmalonic aciduria type mut
METHYLMALONYL-CoA EPIMERASE DEFICIENCY
Metopic ridging-ptosis-facial dysmorphism syndrome
METTL23-related Intellectual Disability
MEVALONIC ACIDURIA
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
MFN2-related developmental disorder
MFSD8-Related Neuronal Ceroid-Lipofuscinosis
MGAT2-CDG
MIB1-related developmental disorder monoallelic
Micro syndrome
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY PONTINE AUTOSOMAL DOMINANT
Microcephalic dwarfism
Microcephalic osteodysplastic dysplasia Saul-Wilson type
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic primordial dwarfism
Microcephalic primordial dwarfism Dauber type
Microcephalic primordial dwarfism due to RTTN deficiency
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism-insulin resistance syndrome
Microcephaly
MICROCEPHALY 1 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 10 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 11 PRIMARY AUTOSOMAL RECESSIVE
Microcephaly 12 primary autosomal recessive
Microcephaly 13 primary autosomal recessive
MICROCEPHALY 14 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 16 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 18 PRIMARY AUTOSOMAL DOMINANT
MICROCEPHALY 19 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 2 PRIMARY AUTOSOMAL RECESSIVE WITH OR WITHOUT CORTICAL ...
MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 22 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 23 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 24 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 25 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 3 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 4 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 5 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 6 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 7 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 8 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY 9 PRIMARY AUTOSOMAL RECESSIVE
MICROCEPHALY AMISH TYPE
MICROCEPHALY AND CHORIORETINOPATHY AUTOSOMAL RECESSIVE 1
Microcephaly and chorioretinopathy autosomal recessive 2
MICROCEPHALY AND CHORIORETINOPATHY AUTOSOMAL RECESSIVE 3
Microcephaly and chorioretinopathy with or without mental retardation
Microcephaly and Lissencephaly Spectrum Disorders
MICROCEPHALY CATARACTS IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSTONIA WITH ...
MICROCEPHALY CONGENITAL CATARACT AND PSORIASIFORM DERMATITIS
MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Microcephaly Developmental Delay and Brittle Hair and Nails
MICROCEPHALY DEVELOPMENTAL DELAY AND BRITTLE HAIR SYNDROME
MICROCEPHALY EPILEPSY AND DIABETES SYNDROME
MICROCEPHALY FACIAL DYSMORPHISM RENAL AGENESIS AND AMBIGUOUS GENITALIA SYNDROME
MICROCEPHALY GROWTH DEFICIENCY SEIZURES AND BRAIN MALFORMATIONS
Microcephaly growth failure and retinopathy
MICROCEPHALY GROWTH RESTRICTION AND INCREASED SISTER CHROMATID EXCHANGE 2
Microcephaly hearing loss and dysmorphic features
Microcephaly postnatal progressive with seizures and brain atrophy
MICROCEPHALY PRIMARY TYPE 1
microcephaly primary type 7
Microcephaly progressive seizures and cerebral and cerebellar atrophy
Microcephaly progressive with seizures and cerebral and cerebellar atrophy
MICROCEPHALY SEIZURES AND DEVELOPMENTAL DELAY
MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 1
MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 2
MICROCEPHALY SHORT STATURE AND LIMB ABNORMALITIES
MICROCEPHALY SHORT STATURE AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
Microcephaly with or without chorioretinopathy lymphedema or mental retardation
Microcephaly with short stature
MICROCEPHALY-CAPILLARY MALFORMATION MIC-CAP SYNDROME
Microcephaly-capillary malformation syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial disability ...
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial syndrome ...
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies ...
Microcephaly-intellectual disability-sensorineural hearing muscle tone syndrome ...
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-micromelia syndrome
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Microcephaly-short stature-limb abnormalities syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microcornea myopic chorioretinal atrophy and telecanthus
MICROCORNEA ROD-CONE DYSTROPHY CATARACT AND POSTERIOR STAPHYLOMA 1
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Microcystic stromal tumor
Microcytic anemia with liver iron overload
Microduplication Xp11.22-p11.23 syndrome
Microform holoprosencephaly
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual ...
MICROHYDRANENCEPHALY
Microlissencephaly
Microphthalmia and Diaphragmatic Hernia
MICROPHTHALMIA ISOLATED 2
MICROPHTHALMIA ISOLATED 3
MICROPHTHALMIA ISOLATED 4
MICROPHTHALMIA ISOLATED 5
MICROPHTHALMIA ISOLATED 6
MICROPHTHALMIA ISOLATED 7
MICROPHTHALMIA ISOLATED 8
microphthalmia isolated type 2
MICROPHTHALMIA ISOLATED TYPE 3
MICROPHTHALMIA ISOLATED TYPE 5
MICROPHTHALMIA ISOLATED TYPE 6
MICROPHTHALMIA ISOLATED WITH CATARACT 2
MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4
MICROPHTHALMIA ISOLATED WITH COLOBOMA 10
MICROPHTHALMIA ISOLATED WITH COLOBOMA 3
MICROPHTHALMIA ISOLATED WITH COLOBOMA 5
MICROPHTHALMIA ISOLATED WITH COLOBOMA 6
Microphthalmia isolated with coloboma 7
MICROPHTHALMIA ISOLATED WITH COLOBOMA 9
microphthalmia isolated with coloboma type 5
Microphthalmia Lenz type
MICROPHTHALMIA SYNDROMIC 1
MICROPHTHALMIA SYNDROMIC 11
Microphthalmia syndromic 12
Microphthalmia syndromic 13
MICROPHTHALMIA SYNDROMIC 14
MICROPHTHALMIA SYNDROMIC 14 biallelic
MICROPHTHALMIA SYNDROMIC 2
MICROPHTHALMIA SYNDROMIC 3
MICROPHTHALMIA SYNDROMIC 5
MICROPHTHALMIA SYNDROMIC 6
MICROPHTHALMIA SYNDROMIC 9
MICROPHTHALMIA SYNDROMIC TYPE 2
MICROPHTHALMIA SYNDROMIC TYPE 3
MICROPHTHALMIA SYNDROMIC TYPE 5
MICROPHTHALMIA SYNDROMIC TYPE 7
MICROPHTHALMIA SYNDROMIC TYPE 8
MICROPHTHALMIA SYNDROMIC TYPE 9
Microphthalmia with brain and digit anomalies
MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES
MICROPHTHALMIA WITH LIMB ANOMALIES
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Microphthalmia with Linear Skin Lesions
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Microspherophakia
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA WITH ECTOPIA LENTIS AND WITHOR WITHOUT ...
Microtia
MICROTIA HEARING IMPAIRMENT AND CLEFT PALATE MICROTIA WITH OR WITHOUT HEARING ...
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 1
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 2
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 3
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 4
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 5
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 6
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 7
MICROVILLUS INCLUSION DISEASE
Midface hypoplasia hearing impairment elliptocytosis and nephrocalcinosis
Midline interhemispheric variant of holoprosencephaly
Midline-bridging neuronal commissure disruption horizontal gaze palsy scoliosis ...
MIGRAINE FAMILIAL HEMIPLEGIC 1
MIGRAINE FAMILIAL HEMIPLEGIC 2
MIGRAINE FAMILIAL HEMIPLEGIC 3
MIGRAINE FAMILIAL HEMIPLEGIC ATP1A2-related
MIGRAINE WITH OR WITHOUT AURA SUSCEPTIBILITY TO 1
MIGRAINE WITH OR WITHOUT AURA SUSCEPTIBILITY TO 13
Mild Canavan disease
Mild hemophilia A
Mild hemophilia B
Mild hyperphenylalaninemia
Mild phenylketonuria
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset ...
Miller-Dieker syndrome
Milroy Disease
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Minimal pigment oculocutaneous albinism type 1
MIRAGE - myelodysplasia infection restriction of growth adrenal hypoplasia ...
MIRAGE SYNDROME
MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 3
MIRROR MOVEMENTS 4
Mirror-image polydactyly
MISMATCH REPAIR CANCER SYNDROME
MISMATCH REPAIR CANCER SYNDROME 1
MISMATCH REPAIR CANCER SYNDROME 2
MISMATCH REPAIR CANCER SYNDROME 3
MISMATCH REPAIR CANCER SYNDROME 4
MiT family translocation renal cell carcinoma
MITCHELL SYNDROME
Mitchell-Riley syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency nuclear type 1
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 11
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 13
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 14
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 15
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 16
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 22
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 23
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 24
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 26
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 27
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 28
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 29
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 30
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 31
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 34
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 35
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 9
Mitochondrial complex II deficiency
MITOCHONDRIAL COMPLEX III DEFICIENCY
Mitochondrial Complex III Deficiency Cardiomyopathy and Alopecia Totalis
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX IV DEFICIENCY
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 11
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 13
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 14
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 15
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 16
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 9
MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 4
MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 6
Mitochondrial depletion syndrome
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE) AUTOSOMAL ...
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE) AUTOSOMAL ...
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 16 HEPATIC TYPE
MITOCHONDRIAL DNA DEPLETION SYNDROME 17
MITOCHONDRIAL DNA DEPLETION SYNDROME 18
MITOCHONDRIAL DNA DEPLETION SYNDROME 19
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 MYOPATHIC TYPE
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 HEPATOCEREBRAL TYPE
Mitochondrial DNA depletion syndrome 4A
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Mitochondrial DNA depletion syndrome 4B MNGIE type
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without ...
MITOCHONDRIAL DNA DEPLETION SYNDROME 6
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 HEPATOCEREBRAL TYPE
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 HEPATOCEREBRAL TYPE
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL ...
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 ENCEPHALOMYOPATHIC TYPE ACIDURIA ...
Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic ...
Mitochondrial DNA depletion syndrome encephalomyopathic form with renal ...
Mitochondrial DNA depletion syndrome encephalomyopathic form with variable ...
Mitochondrial DNA depletion syndrome hepatocerebral form due to DGUOK deficiency
Mitochondrial DNA depletion syndrome hepatocerebrorenal form
Mitochondrial DNA Depletion Syndrome Myopathic Form
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA-related cardiomyopathy and hearing loss
Mitochondrial DNA-related progressive external ophthalmoplegia
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 ...
Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Mitochondrial membrane protein-associated neurodegeneration
Mitochondrial myopathy and sideroblastic anemia
MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES
MITOCHONDRIAL MYOPATHY EPISODIC WITH OR WITHOUT OPTIC ATROPHY ANDREVERSIBLE ...
Mitochondrial myopathy with lactic acidosis
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial non-syndromic sensorineural deafness
MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND ...
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Mitochondrial Respiratory Chain Complex III Deficiency UQCRB-Related
Mitochondrial Respiratory Chain Complex III Deficiency UQCRQ Related
Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
Mitochondrial translation defect associated with hypertrophic cardiomyopathy ...
Mitochondrial trifunctional protein deficiency
MITRAL VALVE PROLAPSE 2
MITRAL VALVE PROLAPSE 3
Mixed phenotype acute leukemia
MIYOSHI MUSCULAR DYSTROPHY 1
MIYOSHI MUSCULAR DYSTROPHY 3
MIYOSHI MYOPATHY
MME-related autosomal dominant Charcot Marie Tooth disease type 2
MMGT1-related developmental disorder
MMP21-associated heterotaxy
MN1 C-terminal truncation syndrome
Moderate multiminicore disease with hand involvement
Moderate Sensorineural Hearing Loss
Moderately severe hemophilia A
Moderately severe hemophilia B
MODY
Moebius syndrome
MOGS-CDG
Mohr-Majewski Syndrome
MOHR-TRANEBJAERG SYNDROME
Molybdenum Cofactor Deficiency
MOLYBDENUM COFACTOR DEFICIENCY COMPLEMENTATION GROUP A
MOLYBDENUM COFACTOR DEFICIENCY COMPLEMENTATION GROUP B
Molybdenum cofactor deficiency complementation group C
MONILETHRIX
Monoamine oxidase A deficiency
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
Monocytopenia with susceptibility to infections
Monomelic amyotrophy
MONONEUROPATHY OF THE MEDIAN NERVE MILD
Monosomy 13q14
Monosomy 22q13.3
Monosomy 5p
Monosomy 9q22.3
Monostotic fibrous dysplasia
Morbid obesity and spermatogenic failure
MORC2 - axonal neuropathy and neurodevelopmental disorder
MORM syndrome
Morning glory disc anomaly
Mosaic Variegated Aneuploidy and Wilms Tumour
Mosaic variegated aneuploidy syndrome
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Mosaic variegated aneuploidy syndrome 2
Mosaic variegated aneuploidy syndrome 3
Motile Cilia Defects and Situs Inversus
Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body ...
MOWAT-WILSON SYNDROME
Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic syndrome ...
Moyamoya disease
MOYAMOYA DISEASE 2
Moyamoya disease 5
MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
Moyamoya disease with early-onset achalasia
MPDU1-CDG
MPI-CDG
MRCS syndrome
MRX with/without nystagmus
MSH3-related attenuated familial adenomatous polyposis
MSI1-associated Microcephaly
MSL2-related developmental disorder monoallelic
MSL3 syndrome
MT-ATP6-related mitochondrial spastic paraplegia
MUC1-related autosomal dominant tubulointerstitial kidney disease
MUCKLE-WELLS SYNDROME
Mucociliary Clearance and Laterality Defects
MUCOCUTANEOUS ULCERATION CHRONIC
Mucocutaneous venous malformations
MUCOEPITHELIAL DYSPLASIA HEREDITARY
MUCOLIPIDOSIS II ALPHA/BETA
MUCOLIPIDOSIS III ALPHA/BETA
MUCOLIPIDOSIS III GAMMA
MUCOLIPIDOSIS IV
MUCOLIPIDOSIS TYPE II
Mucolipidosis Type III Alpha/Beta
Mucolipidosis type III complementation group A
MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Mucolipidosis type III gamma
Mucolipidosis type IV
MUCOPOLYSACCHARIDOSIS TYPE 1S
MUCOPOLYSACCHARIDOSIS TYPE 2
Mucopolysaccharidosis type 2 attenuated form
Mucopolysaccharidosis type 2 severe form
MUCOPOLYSACCHARIDOSIS TYPE 3A
MUCOPOLYSACCHARIDOSIS TYPE 3B
MUCOPOLYSACCHARIDOSIS TYPE 3C
MUCOPOLYSACCHARIDOSIS TYPE 3D
Mucopolysaccharidosis type 4A
Mucopolysaccharidosis type 4B
MUCOPOLYSACCHARIDOSIS TYPE 6
Mucopolysaccharidosis type 6 rapidly progressing
Mucopolysaccharidosis type 6 slowly progressing
Mucopolysaccharidosis type 7
MUCOPOLYSACCHARIDOSIS TYPE 9
MUCOPOLYSACCHARIDOSIS TYPE II
MUCOPOLYSACCHARIDOSIS TYPE IIIA
MUCOPOLYSACCHARIDOSIS TYPE IIIB
MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS TYPE IIID
MUCOPOLYSACCHARIDOSIS TYPE IVA
MUCOPOLYSACCHARIDOSIS TYPE IVB
MUCOPOLYSACCHARIDOSIS TYPE IX
MUCOPOLYSACCHARIDOSIS TYPE VI
MUCOPOLYSACCHARIDOSIS TYPE VII
Mucopolysaccharidosis-like syndrome with congenital heart defects and disorders ...
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
MUENKE SYNDROME
Muir-Torre syndrome
MULIBREY NANISM
MULLEGAMA-KLEIN-MARTINEZ SYNDROME
Mullerian aplasia and hyperandrogenism
Multicentric carpo-tarsal osteolysis with or without nephropathy
MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
MULTICENTRIC OSTEOLYSIS NODULOSIS AND ARTHROPATHY
Multicentric osteolysis-nodulosis-arthropathy spectrum
Multifocal pattern dystrophy simulating fundus flavimaculatus
MULTINUCLEATED NEURONS ANHYDRAMNIOS RENAL DYSPLASIA CEREBELLAR HYPOPLASIA AND ...
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar syndrome ...
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
Multiple acyl-CoA dehydrogenase deficiency mild type
Multiple acyl-CoA dehydrogenase deficiency severe neonatal type
Multiple benign circumferential skin creases on limbs
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
MULTIPLE ENDOCRINE NEOPLASIA TYPE I
MULTIPLE ENDOCRINE NEOPLASIA TYPE IIA
MULTIPLE ENDOCRINE NEOPLASIA TYPE IIB
MULTIPLE ENDOCRINE NEOPLASIA TYPE IV
Multiple epiphyseal dysplasia Al-Gazali type
Multiple epiphyseal dysplasia Beighton type
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia type 1
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6
MULTIPLE FIBROADENOMAS OF THE BREAST
Multiple intestinal atresia
MULTIPLE JOINT DISLOCATIONS SHORT STATURE AND CRANIOFACIAL DYSMORPHISMWITH OR ...
Multiple malformations of neural tube ear genitourinary and gastrointestinal ...
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Multiple mitochondrial dysfunctions syndrome type 3
Multiple mitochondrial dysfunctions syndrome type 4
Multiple mitochondrial dysfunctions syndrome type 5
Multiple mitochondrial dysfunctions syndrome type 6
Multiple myeloma
Multiple osteochondromas
Multiple paragangliomas associated with polycythemia
MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
MULTIPLE SCLEROSIS SUSCEPTIBILITY TO
MULTIPLE SCLEROSIS SUSCEPTIBILITY TO 5
Multiple self-healing squamous epithelioma
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA SUSCEPTIBILITY TO
MULTIPLE SULFATASE DEFICIENCY
Multiple symmetric lipomatosis
Multiple synostoses syndrome
MULTIPLE SYNOSTOSES SYNDROME 1
MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 3
MULTIPLE SYNOSTOSES SYNDROME 4
multiple synostoses syndrome type 3
MULTIPLE SYSTEM ATROPHY 1 SUSCEPTIBILITY TO
Multiple system atrophy cerebellar type
Multiple system atrophy parkinsonian type
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MUNGAN SYNDROME
Muscle filaminopathy
MUSCLE HYPERTROPHY
Muscle Weakness and Isolated Complex I Deficiency
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
MUSCULAR DYSTROPHY BECKER TYPE
Muscular dystrophy congenital davignon-chauveau type
MUSCULAR DYSTROPHY CONGENITAL DUE TO INTEGRIN ALPHA-7 DEFICIENCY
MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED
Muscular dystrophy congenital megaconial type
MUSCULAR DYSTROPHY CONGENITAL MEROSIN-DEFICIENT 1A
MUSCULAR DYSTROPHY CONGENITAL WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY DUCHENNE TYPE
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 1
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 2
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 3
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 4
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 1
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 10
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 12
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 17
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 18
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 2
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 21
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 23
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 25
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 26
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 3
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 4
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 5
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 6
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 7
MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 8
Muscular dystrophy limb-girdle type 2Q
Muscular dystrophy limb-girdle type 2S
Muscular dystrophy Selcen type
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES ...
muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYEANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYEANOMALIES A ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 2 ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 3 ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 6 ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 1 ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT IMPAIRED TYPE ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT IMPAIRED INTELLECTUAL ...
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 15
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Musculocontractural Ehlers-Danlos syndrome
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
MUTYH-related attenuated familial adenomatous polyposis
MYASTHENIC SYNDROME CONGENITAL 10
MYASTHENIC SYNDROME CONGENITAL 11 ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ...
MYASTHENIC SYNDROME CONGENITAL 12
MYASTHENIC SYNDROME CONGENITAL 13
MYASTHENIC SYNDROME CONGENITAL 14
Myasthenic syndrome congenital 15
MYASTHENIC SYNDROME CONGENITAL 16
MYASTHENIC SYNDROME CONGENITAL 17
MYASTHENIC SYNDROME CONGENITAL 18
Myasthenic syndrome congenital 19
MYASTHENIC SYNDROME CONGENITAL 1B FAST-CHANNEL
MYASTHENIC SYNDROME CONGENITAL 20 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 21 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 22
MYASTHENIC SYNDROME CONGENITAL 23 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 24 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 25 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 2A SLOW-CHANNEL
MYASTHENIC SYNDROME CONGENITAL 2C ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ...
MYASTHENIC SYNDROME CONGENITAL 3A SLOW-CHANNEL
MYASTHENIC SYNDROME CONGENITAL 3B FAST-CHANNEL
Myasthenic syndrome congenital 3c associated with acetylcholine receptor ...
MYASTHENIC SYNDROME CONGENITAL 4A SLOW-CHANNEL
MYASTHENIC SYNDROME CONGENITAL 4B FAST-CHANNEL
MYASTHENIC SYNDROME CONGENITAL 4C ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ...
MYASTHENIC SYNDROME CONGENITAL 5
MYASTHENIC SYNDROME CONGENITAL 6 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 7 PRESYNAPTIC
MYASTHENIC SYNDROME CONGENITAL 8
MYASTHENIC SYNDROME CONGENITAL 9 ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ...
MYASTHENIC SYNDROME CONGENITAL WITH TUBULAR AGGREGATES 2
MYBPC1-related arthrogryposis and myopathy
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex syndrome ...
MYCOBACTERIUM TUBERCULOSIS SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS AGAINST ...
MYELODYSPLASTIC SYNDROME
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA INCLUDED
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
MYELOMA MULTIPLE AMYLOIDOSIS SYSTEMIC INCLUDED
MYELOPEROXIDASE DEFICIENCY
MYELOPROLIFERATIVE DISORDER CHRONIC WITH EOSINOPHILIA
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS FAMILIAL (MULTIPLE TYPES) TO ...
MYH10-related Multiple congenital anomalies
MYH7-related late-onset scapuloperoneal muscular dystrophy
MYH9-related disease
Myhre syndrome
MYLPF arthrogryposis biallelic
MYLPF arthrogryposis monoallelic
MYO5B-related progressive familial intrahepatic cholestasis
MYOCARDIAL INFARCTION SUSCEPTIBILITY TO MYOCARDIAL INFARCTION SUSCEPTIBILITY TO ...
MYOCLONIC EPILEPSY FAMILIAL INFANTILE
Myoclonic epilepsy infantile familial
MYOCLONIC EPILEPSY OF LAFORA
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
Myoclonic-astastic epilepsy
MYOCLONIC-ATONIC EPILEPSY
MYOCLONUS FAMILIAL 1
MYOCLONUS FAMILIAL 2
MYOCLONUS INTRACTABLE NEONATAL
MYOCLONUS-DYSTONIA SYNDROME
MYOFIBRILLAR MYOPATHY 10
MYOFIBROMATOSIS INFANTILE 1
MYOFIBROMATOSIS INFANTILE 2
Myoglobinuria acute recurrent autosomal recessive
Myopathic Ehlers-Danlos syndrome
Myopathic intestinal pseudoobstruction
Myopathy and diabetes mellitus
Myopathy areflexia respiratory distress and dysphagia early-onset
MYOPATHY AUTOSOMAL RECESSIVE WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
MYOPATHY CENTRONUCLEAR 1
MYOPATHY CENTRONUCLEAR 2
MYOPATHY CENTRONUCLEAR 4
Myopathy centronuclear 5
MYOPATHY CENTRONUCLEAR 6 WITH FIBER-TYPE DISPROPORTION
MYOPATHY CENTRONUCLEAR X-LINKED
MYOPATHY CONGENITAL BAILEY-BLOCH
MYOPATHY CONGENITAL COMPTON-NORTH
MYOPATHY CONGENITAL PROGRESSIVE WITH SCOLIOSIS
MYOPATHY CONGENITAL PROXIMAL WITH MINICORE LESIONS
MYOPATHY CONGENITAL WITH DIAPHRAGMATIC DEFECTS RESPIRATORY INSUFFICIENCY AND ...
MYOPATHY CONGENITAL WITH FAST-TWITCH (TYPE II) FIBER ATROPHY
MYOPATHY CONGENITAL WITH FIBER-TYPE DISPROPORTION
MYOPATHY CONGENITAL WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
MYOPATHY CONGENITAL WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES
MYOPATHY CONGENITAL WITH TREMOR
MYOPATHY DISTAL 1
MYOPATHY DISTAL 4
MYOPATHY DISTAL 5
MYOPATHY DISTAL 6 ADULT-ONSET AUTOSOMAL DOMINANT
MYOPATHY DISTAL TATEYAMA TYPE
MYOPATHY DISTAL WITH ANTERIOR TIBIAL ONSET
MYOPATHY DISTAL WITH RIMMED VACUOLES
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
Myopathy early-onset areflexia respiratory distress and dysphagia
MYOPATHY EPILEPSY AND PROGRESSIVE CEREBRAL ATROPHY
Myopathy isolated mitochondrial autosomal dominant
MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 1
MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 2
MYOPATHY MITOCHONDRIAL AND ATAXIA
MYOPATHY MITOCHONDRIAL PROGRESSIVE WITH CONGENITAL CATARACT AND DEVELOPMENTAL ...
MYOPATHY MYOFIBRILLAR 1
Myopathy myofibrillar 2
MYOPATHY MYOFIBRILLAR 3
MYOPATHY MYOFIBRILLAR 4
MYOPATHY MYOFIBRILLAR 5
Myopathy myofibrillar 6
MYOPATHY MYOFIBRILLAR 7
MYOPATHY MYOFIBRILLAR 8
MYOPATHY MYOFIBRILLAR 9 WITH EARLY RESPIRATORY FAILURE
Myopathy myofibrillar fatal infantile hypertonic alpha-B crystallin-related
MYOPATHY MYOFIBRILLAR TYPE 4
MYOPATHY MYOSIN STORAGE AUTOSOMAL DOMINANT
MYOPATHY MYOSIN STORAGE AUTOSOMAL RECESSIVE
MYOPATHY PROXIMAL WITH OPHTHALMOPLEGIA
MYOPATHY SCAPULOHUMEROPERONEAL
MYOPATHY SPHEROID BODY
MYOPATHY TUBULAR AGGREGATE 1
Myopathy tubular aggregate 2
Myopathy vacuolar with casq1 aggregates
Myopathy with extrapyramidal signs
MYOPATHY WITH LACTIC ACIDOSIS HEREDITARY
MYOPATHY X-LINKED WITH EXCESSIVE AUTOPHAGY
MYOPATHY X-LINKED WITH POSTURAL MUSCLE ATROPHY
MYOPIA 21 AUTOSOMAL DOMINANT
MYOPIA 22 AUTOSOMAL DOMINANT
Myopia 23 autosomal recessive
MYOPIA 24 AUTOSOMAL DOMINANT
MYOPIA 25 AUTOSOMAL DOMINANT
MYOPIA 26 X-LINKED FEMALE-LIMITED
MYOPIA 27
Myopia 6
MYOPIA HIGH WITH CATARACT AND VITREORETINAL DEGENERATION
Myosclerosis
MYOSCLEROSIS AUTOSOMAL RECESSIVE
Myostatin-related muscle hypertrophy
MYOTONIA CONGENITA AUTOSOMAL DOMINANT
MYOTONIA CONGENITA AUTOSOMAL RECESSIVE
MYOTONIA FLUCTUANS
MYOTONIA PERMANENS
MYOTONIA POTASSIUM-AGGRAVATED
MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 2
MYOTUBULAR MYOPATHY X-LINKED
MYT1L syndrome
Myxofibrosarcoma
Myxoid/round cell liposarcoma
MYXOMA INTRACARDIAC
N-ACETYLASPARTATE DEFICIENCY
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
NABAIS SA-DE VRIES SYNDROME TYPE 1
NABAIS SA-DE VRIES SYNDROME TYPE 2
NADPH DEHYDROGENASE QUINONE 1
NADPHX dehydratase deficiency
NADPHX epimerase deficiency
NADSYN1-related Congenital NAD Deficiency Disorder
Naegeli-Franceschetti-Jadassohn syndrome
Nager syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral syndrome ...
NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10
NAIL DISORDER NONSYNDROMIC CONGENITAL 1
NAIL DISORDER NONSYNDROMIC CONGENITAL 3
NAIL DISORDER NONSYNDROMIC CONGENITAL 4
NAIL DISORDER NONSYNDROMIC CONGENITAL 8
NAIL-PATELLA SYNDROME
Nail-patella-like renal disease
Nakajo syndrome
NANCE-HORAN SYNDROME
Nanophthalmos
NANOPHTHALMOS 2
Nanophthalmos 4
NAPB-related Neurodevelopmental Disorder
NARCOLEPSY 1
NARCOLEPSY 7
Narcolepsy type 1
Narcolepsy type 2
NARP syndrome
NARS1 Neurodevelopmental Disorder biallelic
NARS1 Neurodevelopmental Disorder monoallelic
NASOPHARYNGEAL CARCINOMA
NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY TO 3
Nasu-Hakola disease
NATIVE AMERICAN MYOPATHY
Navajo neurohepatopathy
NAXOS DISEASE
NBEA Neurodevelopment disorder with seizures
NCKAP1-related Neurodevelopmental Disorder
NCOR1-related developmental disorder
NDE1-related microhydranencephaly
NDNF-related Congenital Hypogonadotrophic Hypogonadism
NDUFA8-related developmental disorder
NDUFAF8-related Leigh Syndrome
NEK9-related lethal skeletal dysplasia
NEMALINE MYOPATHY 1
Nemaline myopathy 10
NEMALINE MYOPATHY 11 AUTOSOMAL RECESSIVE
Nemaline myopathy 2
NEMALINE MYOPATHY 3
NEMALINE MYOPATHY 4
NEMALINE MYOPATHY 5
Nemaline myopathy 6
NEMALINE MYOPATHY 7
Nemaline myopathy 8
Nemaline myopathy 8 autosomal recessive
NEMALINE MYOPATHY 9
Neonatal acute respiratory distress due to SP-B deficiency
NEONATAL ADRENOLEUKODYSTROPHY
Neonatal alloimmune neutropenia
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic kidneys ...
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal epilepsy spectrum
Neonatal epileptic encephalopathy due to glutaminase deficiency
Neonatal glycine encephalopathy
Neonatal ichthyosis-sclerosing cholangitis syndrome
Neonatal inflammatory skin and bowel disease
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal Marfan syndrome
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Neonatal severe primary hyperparathyroidism
Neonatal-onset epilepsy defective mitochondrial energy metabolism and glycine ...
Nephroblastoma
Nephrogenic diabetes insipidus
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
NEPHROLITHIASIS CALCIUM OXALATE
NEPHROLITHIASIS URIC ACID SUSCEPTIBILITY TO
NEPHROLITHIASIS X-LINKED RECESSIVE WITH RENAL FAILURE
NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 1
NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 2
NEPHRONOPHTHISIS 1
NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 13
Nephronophthisis 14
NEPHRONOPHTHISIS 15
Nephronophthisis 16
NEPHRONOPHTHISIS 18
Nephronophthisis 19
NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 4
Nephronophthisis 7
NEPHRONOPHTHISIS 9
Nephronophthisis Related Ciliopathy
NEPHRONOPHTHISIS TYPE 1
NEPHRONOPHTHISIS TYPE 11
NEPHRONOPHTHISIS TYPE 3
NEPHRONOPHTHISIS TYPE 4
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1
nephropathy with pretibial epidermolysis bullosa and deafness
NEPHROTIC SYNDROME TYPE 1
Nephrotic syndrome type 10
Nephrotic syndrome type 11
NEPHROTIC SYNDROME TYPE 12
NEPHROTIC SYNDROME TYPE 13
NEPHROTIC SYNDROME TYPE 14
NEPHROTIC SYNDROME TYPE 15
NEPHROTIC SYNDROME TYPE 16
NEPHROTIC SYNDROME TYPE 17
NEPHROTIC SYNDROME TYPE 18
NEPHROTIC SYNDROME TYPE 19
NEPHROTIC SYNDROME TYPE 2
NEPHROTIC SYNDROME TYPE 20
NEPHROTIC SYNDROME TYPE 21
NEPHROTIC SYNDROME TYPE 3
NEPHROTIC SYNDROME TYPE 4
Nephrotic syndrome type 5 with or without ocular abnormalities
NEPHROTIC SYNDROME TYPE 6
NEPHROTIC SYNDROME TYPE 7
NEPHROTIC SYNDROME TYPE 8
Nephrotic syndrome type 9
Nephrotic syndrome with primary microcephaly
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
NESCAV SYNDROME
Nestor-Guillermo progeria syndrome
NETHERTON SYNDROME
NEU-LAXOVA
Neu-Laxova syndrome
NEU-LAXOVA SYNDROME 1
Neu-laxova syndrome 2
Neural tube defect
NEURAL TUBE DEFECTS
Neural tube defects folate-sensitive
Neural tube defects susceptibility to
Neuralgic amyotrophy
NEURAMINIDASE DEFICIENCY
Neuro immuno skeletal Dysplasia Syndrome
Neuroblastoma
NEUROBLASTOMA SUSCEPTIBILITY TO 1
NEUROBLASTOMA SUSCEPTIBILITY TO 2
NEUROBLASTOMA SUSCEPTIBILITY TO 3
NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED WITH VARIABLE ATAXIA AND ...
NEURODEGENERATION CHILDHOOD-ONSET WITH ATAXIA TREMOR OPTIC ATROPHY AND DECLINE ...
NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY
NEURODEGENERATION CHILDHOOD-ONSET WITH CEREBELLAR ATROPHY
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
NEURODEGENERATION EARLY-ONSET WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ...
Neurodegeneration in Early Childhood
NEURODEGENERATION INFANTILE-ONSET BIOTIN-RESPONSIVE
NEURODEGENERATION WITH ATAXIA DYSTONIA AND GAZE PALSY CHILDHOOD-ONSET
Neurodegeneration with brain iron accumulation
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
Neurodegeneration with brain iron accumulation 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
Neurodegenerative disorder exacerbated by febrile illnesses
Neurodegenerative syndrome due to cerebral folate transport deficiency
Neurodevelopment disorder
Neurodevelopmental Cardiac and Renal Syndrome
Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial ...
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar ...
Neurodevelopmental Disease Associated with Mild Dysmorphism
Neurodevelopmental disorder
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ...
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT AND ...
Neurodevelopmental Disorder in Females
NEURODEVELOPMENTAL DISORDER MITOCHONDRIAL WITH ABNORMAL MOVEMENTS AND LACTIC OR ...
Neurodevelopmental Disorder of Hypusination
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
NEURODEVELOPMENTAL DISORDER WITH ALOPECIA AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH ATAXIA HYPOTONIA AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT ABSENT SPEECH AND DECREASED WHITE ...
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES ABSENT SPEECH AND ...
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL ...
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES SEIZURES AND SCOLIOSIS
NEURODEVELOPMENTAL DISORDER WITH CATARACTS POOR GROWTH AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ...
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES IMPAIRED SPEECH AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES SLEEP DISTURBANCE AND BRAIN ...
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental disorder with epilepsy cataracts feeding difficulties and ...
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY SPASTICITY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR ...
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY WITH OR ...
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND ...
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND ...
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA MICROCEPHALY AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA NEONATAL RESPIRATORY INSUFFICIENCY ...
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA NEUROPATHY AND DEAFNESS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA SEIZURES AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT HYPOTONIA ...
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ...
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY ARTHROGRYPOSIS AND STRUCTURAL ...
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY ATAXIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY CATARACTS AND RENAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY CORTICAL MALFORMATIONS AND ...
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY EPILEPSY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY EPILEPSY AND HYPOMYELINATION
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY HYPOTONIA AND VARIABLE BRAIN ...
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY IMPAIRED LANGUAGE AND GAIT ...
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY IMPAIRED LANGUAGE EPILEPSY AND ...
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND CORTICAL ATROPHY
Neurodevelopmental disorder with midbrain and hindbrain malformations
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES ABNORMAL GAIT AND ...
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR ...
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN EYE OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL ...
Neurodevelopmental disorder with or without hyperkinetic movements and seizures ...
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES ...
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY SPASTICITY AND BRAIN ...
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY SPASTICITY AND BRAIN ...
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ...
NEURODEVELOPMENTAL DISORDER WITH REGRESSION ABNORMAL MOVEMENTS LOSS OF SPEECH ...
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC ...
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
NEURODEVELOPMENTAL DISORDER WITH SEIZURES HYPOTONIA AND BRAIN IMAGING ...
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES ...
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA OPTIC ATROPHY SEIZURES ...
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC ...
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal to ...
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal to ...
NEURODEVELOPMENTAL JAW EYE AND DIGITAL SYNDROME
Neuroectodermal melanolysosomal disease
Neuroendocrine tumor of stomach
Neuroferritinopathy
NEUROFIBROMATOSIS FAMILIAL SPINAL
NEUROFIBROMATOSIS TYPE 1
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Neurofibromatosis type 2
NEUROFIBROMATOSIS TYPE I
NEUROFIBROMATOSIS TYPE II
Neurofibromatosis-Noonan syndrome
Neurogenic arthrogryposis multiplex congenita
Neurogenic scapuloperoneal syndrome Kaeser type
NEUROLOGIC ENDOCRINE AND PANCREATIC DISEASE MULTISYSTEM INFANTILE-ONSET
Neurological conditions associated with aminoacylase 1 deficiency
Neurological Phenotypes
Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy
Neurometabolic disorder due to FARS2 deficiency
NEUROMUSCULAR OCULOAUDITORY SYNDROME
Neuromyotonia and axonal neuropathy autosomal recessive
Neuronal Ceroid Lipofuscinosis
NEURONAL CEROID LIPOFUSCINOSIS TYPE 1
NEURONAL CEROID LIPOFUSCINOSIS TYPE 10
NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
NEURONAL CEROID LIPOFUSCINOSIS TYPE 3
NEURONAL CEROID LIPOFUSCINOSIS TYPE 5
NEURONAL CEROID LIPOFUSCINOSIS TYPE 8
Neuronal intestinal pseudoobstruction
Neuronal intranuclear inclusion disease
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIA
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIB
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIC
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IID
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IX
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VA
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VB
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIIA
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIIB
NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIII
NEUROOCULOCARDIOGENITOURINARY SYNDROME
NEUROPATHY ATAXIA AND RETINITIS PIGMENTOSA
Neuropathy congenital hypomyelinating 1
NEUROPATHY CONGENITAL HYPOMYELINATING 1 AUTOSOMAL RECESSIVE
NEUROPATHY CONGENITAL HYPOMYELINATING 2
NEUROPATHY CONGENITAL HYPOMYELINATING 3
Neuropathy hereditary motor and sensory Okinawa type
NEUROPATHY HEREDITARY MOTOR AND SENSORY RUSSE TYPE
NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIA WITH OPTIC ATROPHY
NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIB WITH OPTIC ATROPHY
NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIC WITH OPTIC ATROPHY
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IA
Neuropathy hereditary sensory and autonomic type IC
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IIA
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IIB
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE III
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE V
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VI
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VII
NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VIII
Neuropathy hereditary sensory type ID
NEUROPATHY HEREDITARY SENSORY TYPE IE
NEUROPATHY HEREDITARY SENSORY TYPE IF
Neuropathy hereditary sensory type IIC
NEUROPATHY HEREDITARY SENSORY WITH SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE
NEUROPATHY HEREDITARY WITH LIABILITY TO PRESSURE PALSIES
NEUROPATHY HEREDITARY WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
Neuropathy with hearing impairment
Neutral lipid storage disease with ichthyosis
NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
Neutral lipid storage myopathy
NEUTROPENIA NONIMMUNE CHRONIC IDIOPATHIC OF ADULTS
NEUTROPENIA SEVERE CONGENITAL 1 AUTOSOMAL DOMINANT
NEUTROPENIA SEVERE CONGENITAL 2 AUTOSOMAL DOMINANT
NEUTROPENIA SEVERE CONGENITAL 3 AUTOSOMAL RECESSIVE
NEUTROPENIA SEVERE CONGENITAL 4 AUTOSOMAL RECESSIVE
NEUTROPENIA SEVERE CONGENITAL 5 AUTOSOMAL RECESSIVE
NEUTROPENIA SEVERE CONGENITAL 6 AUTOSOMAL RECESSIVE
Neutropenia severe congenital 7 autosomal recessive
NEUTROPENIA SEVERE CONGENITAL 8 AUTOSOMAL DOMINANT
NEUTROPENIA SEVERE CONGENITAL X-LINKED
NEUTROPHIL IMMUNODEFICIENCY SYNDROME
NEUTROPHILIC DERMATOSIS ACUTE FEBRILE
NEVUS COMEDONICUS
Nevus comedonicus syndrome
NEVUS EPIDERMAL
NEWFOUNDLAND ROD-CONE DYSTROPHY
NICOLAIDES-BARAITSER SYNDROME
Niemann-Pick disease type A
Niemann-Pick disease type B
NIEMANN-PICK DISEASE TYPE BNIEMANN-PICK DISEASE TYPE E INCLUDED
Niemann-Pick disease type C adult neurologic onset
Niemann-Pick disease type C juvenile neurologic onset
Niemann-Pick disease type C late infantile neurologic onset
Niemann-Pick disease type C severe early infantile neurologic onset
Niemann-Pick disease type C severe perinatal form
NIEMANN-PICK DISEASE TYPE C1
NIEMANN-PICK DISEASE TYPE C2
NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 1
NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 2
NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 3
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1A
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1B
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1C
Night blindness congenital stationary type 1D
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1E
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1F
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1G
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1H
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 2A
NIGHT BLINDNESS CONGENITAL STATIONARY TYPE1I
NIJMEGEN BREAKAGE SYNDROME
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
NIK deficiency
NITRIC OXIDE SYNTHASE 3
NIVELON-NIVELON-MABILLE SYNDROME
NIZON-ISIDOR SYNDROME
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
NLRC4-related familial cold autoinflammatory syndrome
NLRP12-associated hereditary periodic fever syndrome
NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1
Nodular fasciitis
Nodular urticaria pigmentosa
NOG-related-symphalangism spectrum disorder
NON RARE IN EUROPE: Age-related macular degeneration
NON RARE IN EUROPE: Aldosterone-producing adenoma
NON RARE IN EUROPE: Alzheimer disease
NON RARE IN EUROPE: Ankylosing spondylitis
NON RARE IN EUROPE: Asperger syndrome
NON RARE IN EUROPE: Autism
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
NON RARE IN EUROPE: Barrett esophagus
NON RARE IN EUROPE: Benign familial hematuria
NON RARE IN EUROPE: Berger disease
NON RARE IN EUROPE: Brachydactyly type D
NON RARE IN EUROPE: Celiac disease
NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency
NON RARE IN EUROPE: Crohn disease
NON RARE IN EUROPE: Dementia with Lewy body
NON RARE IN EUROPE: Diabetes mellitus type 1
NON RARE IN EUROPE: Essential hypertension
NON RARE IN EUROPE: Exfoliation syndrome
NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia
NON RARE IN EUROPE: Familial hypobetalipoproteinemia
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
NON RARE IN EUROPE: FG syndrome phenotypic spectrum
NON RARE IN EUROPE: Gilbert syndrome
NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency
NON RARE IN EUROPE: Hemochromatosis type 1
NON RARE IN EUROPE: Hereditary essential tremor
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
NON RARE IN EUROPE: Hidradenitis suppurativa
NON RARE IN EUROPE: Hyperlipoproteinemia type 4
NON RARE IN EUROPE: Hypodontia
NON RARE IN EUROPE: Idiopathic infantile nystagmus
NON RARE IN EUROPE: Immunoglobulin A deficiency
NON RARE IN EUROPE: Infantile capillary hemangioma
NON RARE IN EUROPE: Isolated keratoconus
NON RARE IN EUROPE: Lactase non-persistence in adulthood
NON RARE IN EUROPE: Melanoma
NON RARE IN EUROPE: Metabolic syndrome
NON RARE IN EUROPE: Multiple sclerosis
NON RARE IN EUROPE: Non rare obesity
NON RARE IN EUROPE: Non rare thrombophilia
NON RARE IN EUROPE: Non-alcoholic fatty liver disease
NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to ...
NON RARE IN EUROPE: Obesity due to MC3R deficiency
NON RARE IN EUROPE: Paget disease of bone
NON RARE IN EUROPE: Parkinson disease
NON RARE IN EUROPE: Partial color blindness deutan type
NON RARE IN EUROPE: Partial color blindness protan type
NON RARE IN EUROPE: Patent arterial duct
NON RARE IN EUROPE: Primary adult open-angle glaucoma
NON RARE IN EUROPE: Primary bile acid malabsorption
NON RARE IN EUROPE: Primary ovarian failure
NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency
NON RARE IN EUROPE: Psoriatic arthritis
NON RARE IN EUROPE: Recurrent acute pancreatitis
NON RARE IN EUROPE: Rheumatoid arthritis
NON RARE IN EUROPE: Specific language impairment
NON RARE IN EUROPE: Tourette syndrome
NON RARE IN EUROPE: Trimethylaminuria
NON RARE IN EUROPE: Ulcerative colitis
NON RARE IN EUROPE: Ventricular septal defect
NON RARE IN EUROPE: Vitiligo
NON RARE IN EUROPE: Wolff-Parkinson-White syndrome
Non-acquired combined pituitary hormone deficiency-sensorineural hearing ...
Non-acquired panhypopituitarism
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-degenerative Pontocerebellar Hypoplasia
Non-epidermolytic palmoplantar keratoderma
Non-hereditary retinoblastoma
Non-immune hydrops fetalis
Non-phenylketonuria hyperphenylalaninemia
Non-photosensitive trichothiodystrophy
Non-progressive cerebellar ataxia with intellectual disability
Non-progressive predominantly posterior cavitating leukoencephalopathy with ...
Non-seminomatous germ cell tumor of testis
Non-specific syndromic intellectual disability
Non-syndromic craniosynostosis
Non-syndromic male infertility due to sperm motility disorder
NONAKA MYOPATHY
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY SUSCEPTIBILITY TO
Nonpecific severe ID
Nonspecific severe ID
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Nonsyndromic autosomal-Recessive intellectual disability
Nonsyndromic deafness DFNB48
NONSYNDROMIC MENTAL RETARDATION
Noonan Syndrome
NOONAN SYNDROME 1
NOONAN SYNDROME 10
NOONAN SYNDROME 11
NOONAN SYNDROME 12
NOONAN SYNDROME 13
NOONAN SYNDROME 3
NOONAN SYNDROME 4
NOONAN SYNDROME 5
NOONAN SYNDROME 6
NOONAN SYNDROME 7
Noonan syndrome 8
NOONAN SYNDROME 9
NOONAN SYNDROME TYPE 3
Noonan syndrome type 6
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Noonan-like syndrome with loose anagen hair
Normosmic congenital hypogonadotropic hypogonadism
NORRIE DISEASE
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NOT IN OMIM
NPHP3-related Meckel-like syndrome
NR4A2-related developmental disorder monoallelic
NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification
NSD2-related developmental disorder monoallelic
NTHL1-related attenuated familial adenomatous polyposis
Nuclear Envelopathy with Early Progeroid Appearance
NUDT2-related Developmental Disorder
Null pituitary adenoma
Null syndrome
NUT midline carcinoma
NYSTAGMUS 1 CONGENITAL X-LINKED
NYSTAGMUS 6 CONGENITAL X-LINKED
OAVS/Goldenhar syndrome
Obesity due to CEP19 deficiency
Obesity due to congenital leptin deficiency
Obesity due to leptin receptor gene deficiency
Obesity due to melanocortin 4 receptor deficiency
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase-I deficiency
Obesity due to SIM1 deficiency
OBESITY EARLY-ONSET WITH ADRENAL INSUFFICIENCY AND RED HAIR
OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY
OBESITY LEANNESS INCLUDED
Obsessive-compulsive disorder
OBSOLETE: Alpha-1-antichymotrypsin deficiency
occipital cortical malformations
Occipital encephalocele
Occipital horn syndrome
Occipital pachygyria and polymicrogyria
OCCULT MACULAR DYSTROPHY
Ochoa syndrome
OCLN-associated Band-like Calcification with Simplified Gyration and ...
Ocular albinism
Ocular albinism with congenital sensorineural deafness
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Ocular cystinosis
Oculoauricular syndrome
Oculoauricular syndrome Schorderet type
Oculocerebrodental syndrome
Oculocerebrofacial syndrome Kaufman type
Oculocerebrorenal syndrome of Lowe
Oculocutaneous Albinism Type 1
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculocutaneous albinism type 6
Oculocutaneous albinism type 7
OCULODENTODIGITAL DYSPLASIA
OCULODENTODIGITAL DYSPLASIA AUTOSOMAL RECESSIVE
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculootodental syndrome
OCULOPHARYNGEAL MUSCULAR DYSTROPHY
OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
OCULOPHARYNGODISTAL MYOPATHY 1
OCULOPHARYNGODISTAL MYOPATHY 2
OCULOSKELETODENTAL SYNDROME
Oculotrichoanal syndrome
ODC1-related developmental disorder monoallelic
ODONNELL-LURIA-RODAN SYNDROME
Odonto-onycho-dermal dysplasia
ODONTOCHONDRODYSPLASIA
ODONTOHYPOPHOSPHATASIA
Odontoleukodystrophy
ODONTOONYCHODERMAL DYSPLASIA
OGDEN SYNDROME
OGT-related developmental disorder hemizygous
OGT-related developmental disorder X-linked dominant
Oguchi disease
OGUCHI DISEASE 1
OGUCHI DISEASE 2
OHDO SYNDROME SBBYS VARIANT
OHDO SYNDROME X-LINKED
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
OKT4 EPITOPE DEFICIENCY
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Oligoarticular juvenile idiopathic arthritis
Oligoastrocytoma
Oligodendroglioma
Oligodontia
Oligodontia-cancer predisposition syndrome
Oligodontia-colorectal cancer syndrome
OLIVER-MCFARLANE SYNDROME
Ollier disease
Olmsted syndrome
OMENN SYNDROME
OMODYSPLASIA 1
OMODYSPLASIA 2
omodysplasia type 1 (OMOD1)
Ondine syndrome
Oocyte maturation defect 1
Oocyte maturation defect 2
OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 5
OOCYTE MATURATION DEFECT 6
OOCYTE MATURATION DEFECT 7
OOCYTE MATURATION DEFECT 8
OOCYTE MATURATION DEFECT 9
OPHTHALMOACROMELIC SYNDROME
OPHTHALMOPLEGIA EXTERNAL WITH RIB AND VERTEBRAL ANOMALIES
Opitz G/BBB Syndrome X-Linked
OPITZ GBBB SYNDROME TYPE I
OPITZ GBBB SYNDROME TYPE II
OPITZ-KAVEGGIA SYNDROME
Opsismodysplasia
OPTIC ATROPHY 1
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA MENTAL RETARDATION AND SEIZURES
OPTIC ATROPHY 11
OPTIC ATROPHY 12
OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES
OPTIC ATROPHY 3 AUTOSOMAL DOMINANT
OPTIC ATROPHY 5
OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
OPTIC ATROPHY 9
OPTIC ATROPHY HEARING LOSS AND PERIPHERAL NEUROPATHY AUTOSOMAL RECESSIVE
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS OPHTHALMOPLEGIA MYOPATHY ATAXIA AND ...
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic atrophy-intellectual disability syndrome
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
OPTIC NERVE HYPOPLASIA BILATERALOPTIC NERVE APLASIA BILATERAL INCLUDED
ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
Oral-facial-digital syndrome with short stature and brachymesophalangy
ORNITHINE TRANSCARBAMYLASE DEFICIENCY
ORNITHINE TRANSCARBAMYLASE DEFICIENCY HYPERAMMONEMIA DUE TO
OROFACIAL CLEFT 10
OROFACIAL CLEFT 11
Orofacial cleft 15
OROFACIAL CLEFT 5
OROFACIAL CLEFT 6 SUSCEPTIBILITY TO
OROFACIAL CLEFT 8
Orofaciodigital syndrome
OROFACIODIGITAL SYNDROME I
OROFACIODIGITAL SYNDROME IV
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 2
Orofaciodigital syndrome type 3
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 5
Orofaciodigital syndrome type 6
OROFACIODIGITAL SYNDROME V
OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME XIV
Orofaciodigital syndrome XV
OROFACIODIGITAL SYNDROME XVI
OROFACIODIGITAL SYNDROME XVII
OROFACIODIGITAL SYNDROME XVIII
OROTIC ACIDURIA
OROTIC ACIDURIA TYPE 1
ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 2
ORTHOSTATIC INTOLERANCE
OSSEOUS HETEROPLASIA PROGRESSIVE
OSTEOARTHRITIS SUSCEPTIBILITY 1
OSTEOARTHRITIS SUSCEPTIBILITY 2
OSTEOARTHRITIS SUSCEPTIBILITY 3
OSTEOARTHRITIS SUSCEPTIBILITY 5
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
OSTEOCHONDRODYSPLASIA BRACHYDACTYLY AND OVERLAPPING MALFORMED DIGITS
OSTEOCHONDRODYSPLASIA COMPLEX LETHAL SYMOENS-BARNES-GISTELINCK TYPE
Osteocraniostenosis
Osteofibrous dysplasia
OSTEOFIBROUS DYSPLASIA SUSCEPTIBILITY TO
OSTEOGENESIS IMPERFECTA
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 5
OSTEOGENESIS IMPERFECTA TYPE I
OSTEOGENESIS IMPERFECTA TYPE II
OSTEOGENESIS IMPERFECTA TYPE III
OSTEOGENESIS IMPERFECTA TYPE IV
OSTEOGENESIS IMPERFECTA TYPE IX
OSTEOGENESIS IMPERFECTA TYPE V
OSTEOGENESIS IMPERFECTA TYPE VI
OSTEOGENESIS IMPERFECTA TYPE VII
OSTEOGENESIS IMPERFECTA TYPE VIII
OSTEOGENESIS IMPERFECTA TYPE X
OSTEOGENESIS IMPERFECTA TYPE XI
OSTEOGENESIS IMPERFECTA TYPE XII
OSTEOGENESIS IMPERFECTA TYPE XIII
OSTEOGENESIS IMPERFECTA TYPE XIV
OSTEOGENESIS IMPERFECTA TYPE XIX
OSTEOGENESIS IMPERFECTA TYPE XV
OSTEOGENESIS IMPERFECTA TYPE XVI
OSTEOGENESIS IMPERFECTA TYPE XVII
OSTEOGENESIS IMPERFECTA TYPE XVIII
OSTEOGENESIS IMPERFECTA TYPE XX
OSTEOGENIC SARCOMA
OSTEOGLOPHONIC DYSPLASIA
Osteoglosphonic dysplasia
Osteomyelitis sterile multifocal with periostitis and pustulosis
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
Osteopathia striata-cranial sclerosis syndrome
OSTEOPETROSIS AUTOSOMAL DOMINANT 1
OSTEOPETROSIS AUTOSOMAL DOMINANT 2
OSTEOPETROSIS AUTOSOMAL DOMINANT 3
Osteopetrosis autosomal dominant type 1
OSTEOPETROSIS AUTOSOMAL RECESSIVE 1
OSTEOPETROSIS AUTOSOMAL RECESSIVE 2
OSTEOPETROSIS AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS AUTOSOMAL RECESSIVE 4
OSTEOPETROSIS AUTOSOMAL RECESSIVE 5
OSTEOPETROSIS AUTOSOMAL RECESSIVE 6
OSTEOPETROSIS AUTOSOMAL RECESSIVE 7
OSTEOPETROSIS AUTOSOMAL RECESSIVE 8
OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Osteopetrosis with renal tubular acidosis
Osteopetrosis-hypogammaglobulinemia syndrome
OSTEOPOROSIS
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OSTEOSARCOMA
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteosclerotic metaphyseal dysplasia
OTITIS MEDIA SUSCEPTIBILITY TO
Otodental syndrome
OTOFACIOCERVICAL SYNDROME
OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 2
Otopalatodigital Syndrome
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
OTOPALATODIGITAL SYNDROME TYPE I
OTOPALATODIGITAL SYNDROME TYPE II
Otospondylomegaepiphyseal dysplasia
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE
Otulin-related auto inflammatory syndrome
OVALOCYTOSIS SOUTHEAST ASIAN
OVARIAN CANCER OVARIAN CANCER EPITHELIAL INCLUDED
OVARIAN DYSGENESIS 1
OVARIAN DYSGENESIS 2
OVARIAN DYSGENESIS 3
OVARIAN DYSGENESIS 4
OVARIAN DYSGENESIS 5
OVARIAN DYSGENESIS 6
OVARIAN DYSGENESIS 7
OVARIAN DYSGENESIS 8
OVARIAN HYPERSTIMULATION SYNDROME
OVARIOLEUKODYSTROPHY
Overgrowth-macrocephaly-facial dysmorphism syndrome
Overhydrated hereditary stomatocytosis
Oxoglutaric aciduria
Pachydermoperiostosis
PACHYGYRIA MICROCEPHALY DEVELOPMENTAL DELAY AND DYSMORPHIC FACIES WITH OR ...
Pachyonychia congenita
Pachyonychia congenita 1
Pachyonychia congenita 2
PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 4
PAGANINI-MIOZZO SYNDROME
PAGET DISEASE OF BONE 2 EARLY-ONSET
PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 5 JUVENILE-ONSET
PAGET DISEASE OF BONE 6
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay ...
PALLISTER-HALL SYNDROME
PALLISTER-HALL-LIKE SYNDROME
PALMOPLANTAR CARCINOMA MULTIPLE SELF-HEALING
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46XX SEX ...
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
Palmoplantar keratoderma and woolly hair
PALMOPLANTAR KERATODERMA BOTHNIAN TYPE
PALMOPLANTAR KERATODERMA EPIDERMOLYTIC
PALMOPLANTAR KERATODERMA I STRIATE FOCAL OR DIFFUSE
Palmoplantar keratoderma mutilating with periorificial keratotic plaques
Palmoplantar keratoderma mutilating with periorificial keratotic plaques ...
PALMOPLANTAR KERATODERMA NAGASHIMA TYPE
PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC
PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1
PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 2
Palmoplantar keratoderma nonepidermolytic focal or diffuse
PALMOPLANTAR KERATODERMA PUNCTATE TYPE IA
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell ...
PANCREATIC AGENESIS
PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 2
Pancreatic agenesis diaphragmatic hernia and congenital heart defects
Pancreatic agenesis-holoprosencephaly syndrome
PANCREATIC AND CEREBELLAR AGENESIS
Pancreatic Cancer
PANCREATIC CANCER SUSCEPTIBILITY TO 1
PANCREATIC CANCER SUSCEPTIBILITY TO 2
PANCREATIC CANCER SUSCEPTIBILITY TO 3
PANCREATIC CANCER SUSCEPTIBILITY TO 4
PANCREATIC CANCER SUSCEPTIBILITY TO 5
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
PANCREATIC LIPASE DEFICIENCY
PANCREATITIS HEREDITARY
Pancytopenia due to IKZF1 mutations
Pancytopenia-developmental delay syndrome
PANHYPOPITUITARISM X-LINKED
PANIC DISORDER 1
Papillary renal cell carcinoma
PAPILLOMA OF CHOROID PLEXUS
Papillon-Lefevre syndrome
PAPILLORENAL SYNDROME
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMAS 1
PARAGANGLIOMAS 2
Paragangliomas 3
PARAGANGLIOMAS 4
PARAGANGLIOMAS 5
PARAGANGLIOMAS 6
PARAGANGLIOMAS 7
PARAMYOTONIA CONGENITA OF VON EULENBURG
PARAOXONASE 1
Parastremmatic dwarfism
PARATHYROID CARCINOMA
PARIETAL FORAMINA 1
PARIETAL FORAMINA 2
Parietal foramina with clavicular hypoplasia
PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA
Paris-Trousseau thrombocytopenia
PARKES WEBER SYNDROME
PARKINSON DISEASE 1 AUTOSOMAL DOMINANT
PARKINSON DISEASE 11 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO
PARKINSON DISEASE 13 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO
PARKINSON DISEASE 14 AUTOSOMAL RECESSIVE
PARKINSON DISEASE 15 AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 17
PARKINSON DISEASE 18 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO
PARKINSON DISEASE 19A JUVENILE-ONSET
PARKINSON DISEASE 2 AUTOSOMAL RECESSIVE JUVENILE
Parkinson disease 20 early-onset
PARKINSON DISEASE 22 AUTOSOMAL DOMINANT
PARKINSON DISEASE 23 AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 4 AUTOSOMAL DOMINANT
PARKINSON DISEASE 5 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO
PARKINSON DISEASE 6 AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7 AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 8 AUTOSOMAL DOMINANT
Parkinson disease 9
Parkinson disease late-onset
PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY PROGRESSIVE 1 ATYPICAL INCLUDED
Parkinsonian-pyramidal syndrome
PARKINSONISM WITH SPASTICITY X-LINKED
Parkinsonism-Dystonia Infantile
PARKINSONISM-DYSTONIA INFANTILE 1
PARKINSONISM-DYSTONIA INFANTILE 2
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
PAROXYSMAL EXTREME PAIN DISORDER
Paroxysmal kinesigenic dyskinesia
Paroxysmal nocturnal hemoglobinuria
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
Paroxysmal non-kinesigenic dyskinesia
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
PAROXYSMAL NONKINESIGENIC DYSKINESIA 3 WITH OR WITHOUT GENERALIZED EPILEPSY
Partial androgen insensitivity syndrome
Partial atrioventricular septal defect
Partial chromosome Y deletion
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior ...
Partial hydatidiform mole
Partial pancreatic agenesis
Partington syndrome
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PATENT DUCTUS ARTERIOSUS 2
PATENT DUCTUS ARTERIOSUS 3
Paternal uniparental disomy of chromosome 6
PBX1-related developmental disorder monoallelic
PCBP2-related developmental disorder monoallelic
PCNA-related progressive neurodegenerative photosensitivity syndrome
PDE4D haploinsufficiency syndrome
Pediatric hepatocellular carcinoma
Pediatric multiple sclerosis
Pediatric systemic lupus erythematosus
PEELING SKIN SYNDROME 1
PEELING SKIN SYNDROME 2
Peeling skin syndrome 3
PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 6
Peeling skin syndrome type A
Peeling skin syndrome type B
PEELING SKIN WITH LEUKONYCHIA ACRAL PUNCTATE KERATOSES CHEILITIS AND KNUCKLE ...
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads ...
PEHO Like condition
PEHO syndrome
PEHO-like syndrome
PELGER-HUET ANOMALY
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELIZAEUS-MERZBACHER DISEASE
Pelizaeus-Merzbacher disease classic form
Pelizaeus-Merzbacher disease connatal form
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease transitional form
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelviscapular dysplasia
PENDRED SYNDROME
Pentosuria
PEPSINOGEN 3 GROUP I
PERCHING syndrome
Perinatal lethal hypophosphatasia
PERIODIC FEVER FAMILIAL AUTOSOMAL DOMINANT
PERIODIC FEVER IMMUNODEFICIENCY AND THROMBOCYTOPENIA SYNDROME
PERIODIC FEVER MENSTRUAL CYCLE-DEPENDENT
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Periodontal Ehlers-Danlos syndrome
PERIODONTITIS AGGRESSIVE 1
PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATING LEUKODYSTROPHY AND ...
PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATION WAARDENBURG SYNDROME ...
Peripheral demyelinating neuropathy-central dysmyelinating disease ...
PERIPHERAL NEUROPATHY AUTOSOMAL RECESSIVE WITH OR WITHOUT IMPAIRED INTELLECTUAL ...
PERIPHERAL NEUROPATHY MYOPATHY HOARSENESS AND HEARING LOSS
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peripheral primitive neuroectodermal tumor
Periventricular Heterotopia
Periventricular Heterotopia with Microcephaly
Periventricular Heterotopia with Microcephaly autosomal recessive
periventricular neuronal heterotopia
Periventricular nodular heterotopia
Periventricular nodular heterotopia 1
Periventricular nodular heterotopia 6
PERIVENTRICULAR NODULAR HETEROTOPIA 7
PERIVENTRICULAR NODULAR HETEROTOPIA 8
PERIVENTRICULAR NODULAR HETEROTOPIA 9
Periventricular nodular heterotopia with ID cleft palate and 2.3 toe syndactyly
Perlman syndrome
Permanent neonatal diabetes mellitus
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Peroxisomal fatty acyl-coa reductase 1 disorder
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 10B
PEROXISOME BIOGENESIS DISORDER 11A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 12A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 14B
PEROXISOME BIOGENESIS DISORDER 1A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 1B
PEROXISOME BIOGENESIS DISORDER 2A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 3A ZELLWEGER
Peroxisome biogenesis disorder 3B
PEROXISOME BIOGENESIS DISORDER 4A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 5A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 6A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 7A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 7B
PEROXISOME BIOGENESIS DISORDER 8A ZELLWEGER
PEROXISOME BIOGENESIS DISORDER 8B
PEROXISOME BIOGENESIS DISORDER 9B
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13
Peroxisome biogenesis disorder complementation group 3
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K
PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA
Perrault syndrome
PERRAULT SYNDROME 1
PERRAULT SYNDROME 2
PERRAULT SYNDROME 3
Perrault syndrome 4
PERRAULT SYNDROME 5
PERRAULT SYNDROME 6
PERRY SYNDROME
Persistent hyperplastic primary vitreous
Persistent hyperplastic primary vitreous autosomal recessive
Persistent Hypotonia Encephalopathy Growth Retardation and Severe Intellectual ...
Persistent Mullerian duct syndrome
PERSISTENT MULLERIAN DUCT SYNDROME TYPES I AND II
Persistent polyclonal B-cell lymphocytosis
PETERS ANOMALY
Peters plus syndrome
PETERS-PLUS SYNDROME
PETTIGREW SYNDROME
Peutz-Jeghers Syndrome
PFEIFFER SYNDROME
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
PGM1-CDG
PGM3-CDG
PHACTR1-associated neurodevelopment disorder
Phakomatosis cesioflammea
Phakomatosis cesiomarmorata
Phakomatosis pigmentokeratotica
Phelan-McDermid syndrome
Phenocopy of Proximal 1p36 Deletions
PHENYLKETONURIA
Pheochromocytoma
Phocomelia Schinzel type
Phosphoenolpyruvate carboxykinase deficiency
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY CYTOSOLIC
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY MITOCHONDRIAL
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
Phosphohydroxylysinuria
PHOSPHOLIPID TRANSFER PROTEIN
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Phosphoserine aminotransferase deficiency infantile/juvenile form
PHOSPHOSERINE PHOSPHATASE DEFICIENCY
PICK DISEASE OF BRAIN
PIDD1-related neurodevelopmental disorder
Piebald trait
PIEBALDISM
PIERPONT SYNDROME
PIERRE ROBIN SEQUENCE
PIERSON SYNDROME
PIGK-associated Neurodevelopmental Syndrome
Pigmentary disorder reticulate with systemic manifestations X-linked
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 1
PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 2
PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 3
PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 4
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
Pigmented paravenous retinochoroidal atrophy
PILAROWSKI-BJORNSSON SYNDROME
Pilomatrixoma
Pilomyxoid astrocytoma
PINEAL HYPERPLASIA INSULIN-RESISTANT DIABETES MELLITUS AND SOMATIC ABNORMALITIES
Pitt Hopkins 2
PITT-HOPKINS SYNDROME
Pitt-Hopkins-like syndrome
Pitt-Hopkins-like syndrome 1
Pitt-Hopkins-like syndrome 2
PITUITARY ADENOMA 1 MULTIPLE TYPES
PITUITARY ADENOMA 2 GROWTH HORMONE-SECRETING
PITUITARY ADENOMA 3 MULTIPLE TYPES
PITUITARY ADENOMA 4 ACTH-SECRETING
PITUITARY ADENOMA 5 MULTIPLE TYPES
Pituitary Dwarfism II
Pituitary gigantism
PITUITARY HORMONE DEFICIENCY COMBINED 1
PITUITARY HORMONE DEFICIENCY COMBINED 2
PITUITARY HORMONE DEFICIENCY COMBINED 3
PITUITARY HORMONE DEFICIENCY COMBINED 4
PITUITARY HORMONE DEFICIENCY COMBINED 6
pituitary hormone deficiency combined type 3
Pituitary stalk interruption syndrome
Pityriasis rubra pilaris
PLAA-associated neurodevelopmental disorder
Plaque-form urticaria pigmentosa
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
PLASMINOGEN DEFICIENCY TYPE I LIGNEOUS CONJUNCTIVITIS INCLUDED
PLATELET DISORDER FAMILIAL WITH ASSOCIATED MYELOID MALIGNANCY
PLATELET GLYCOPROTEIN IV DEFICIENCY
PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY
Platyspondylic dysplasia Torrance type
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE
Platyspondyly with amelogenesis imperfecta
PLCG2-associated antibody deficiency and immune dysregulation
PLEC-related epidermolysis bullosa simplex without extracutaneous involvement
Plectin-related limb-girdle muscular dystrophy R17
Pleomorphic salivary gland adenoma
PLEUROPULMONARY BLASTOMA
Pleuropulmonary blastoma familial tumor susceptibility syndrome
PLG-related hereditary angioedema with normal C1Inh
PLIN1-related familial partial lipodystrophy
PMM2-CDG
PMP2-related Charcot-Marie-Tooth disease type 1
PMP22-RAI1 contiguous gene duplication syndrome
Pneumothorax primary spontaneous
PNPLA6-related Disorder
POGLUT1-related limb-girdle muscular dystrophy R21
Poikiloderma hereditary fibrosing with tendon contractures myopathy and ...
POIKILODERMA WITH NEUTROPENIA
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
POLR1C-related Leukodystrophy
POLR3B-related neurodevelopmental disorder
POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 5
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE AUTOSOMAL RECESSIVE
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
POLYCYTHEMIA VERA
Polydactyly of a biphalangeal thumb
Polydactyly of a triphalangeal thumb
POLYDACTYLY POSTAXIAL TYPE A1
POLYDACTYLY POSTAXIAL TYPE A10
POLYDACTYLY POSTAXIAL TYPE A6
POLYDACTYLY POSTAXIAL TYPE A7
POLYDACTYLY POSTAXIAL TYPE A8
POLYDACTYLY POSTAXIAL TYPE A9
POLYDACTYLY PREAXIAL I
POLYDACTYLY PREAXIAL II
POLYDACTYLY PREAXIAL IV
Polyendocrine-polyneuropathy syndrome
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 2
Polyglucosan body myopathy type 1
Polyglucosan body myopathy type 2
POLYGLUCOSAN BODY NEUROPATHY ADULT FORM
POLYHYDRAMNIOS MEGALENCEPHALY AND SYMPTOMATIC EPILEPSY
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Polymerase proofreading-related adenomatous polyposis
Polymicrogyria
POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS
POLYMICROGYRIA ASYMMETRIC
POLYMICROGYRIA BILATERAL FRONTOPARIETAL
Polymicrogyria bilateral perisylvian autosomal recessive
Polymicrogyria bilateral temporooccipital
Polymicrogyria due to TUBB2B mutation
POLYMICROGYRIA PERISYLVIAN WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Polyostotic fibrous dysplasia
POLYPOSIS SYNDROME HEREDITARY MIXED 2
POLYSUBSTANCE ABUSE SUSCEPTIBILITY TO
Polysyndactyly
Polyvalvular heart disease syndrome
POMGNT1-related limb-girdle muscular dystrophy R15
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia and microcephaly
Pontocerebellar Hypoplasia and Progressive Microcephaly
PONTOCEREBELLAR HYPOPLASIA HYPOTONIA AND RESPIRATORY INSUFFICIENCY SYNDROME ...
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 10
PONTOCEREBELLAR HYPOPLASIA TYPE 11
PONTOCEREBELLAR HYPOPLASIA TYPE 12
PONTOCEREBELLAR HYPOPLASIA TYPE 13
PONTOCEREBELLAR HYPOPLASIA TYPE 1A
PONTOCEREBELLAR HYPOPLASIA TYPE 1B
PONTOCEREBELLAR HYPOPLASIA TYPE 1C
PONTOCEREBELLAR HYPOPLASIA TYPE 1D
Pontocerebellar hypoplasia type 2
Pontocerebellar Hypoplasia Type 2 and Type 4
PONTOCEREBELLAR HYPOPLASIA TYPE 2A
PONTOCEREBELLAR HYPOPLASIA TYPE 2B
PONTOCEREBELLAR HYPOPLASIA TYPE 2C
PONTOCEREBELLAR HYPOPLASIA TYPE 2D
Pontocerebellar hypoplasia type 2e
PONTOCEREBELLAR HYPOPLASIA TYPE 2F
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 9
POPLITEAL PTERYGIUM SYNDROME
Popliteal pterygium syndrome lethal type
PORENCEPHALY 1
Porencephaly 2
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Poretti-boltshauser syndrome
POROKERATOSIS 1 MULTIPLE TYPES
POROKERATOSIS 3 MULTIPLE TYPES
Porokeratosis 7 multiple types
POROKERATOSIS 8 DISSEMINATED SUPERFICIAL ACTINIC TYPE
POROKERATOSIS 9 MULTIPLE TYPES
Porokeratosis of Mibelli
Porokeratotic eccrine ostial and dermal duct nevus
PORPHYRIA ACUTE HEPATIC
PORPHYRIA ACUTE INTERMITTENT
PORPHYRIA CONGENITAL ERYTHROPOIETIC
PORPHYRIA CUTANEA TARDA
Porphyria due to ALA dehydratase deficiency
PORPHYRIA VARIEGATA
Portal hypertension noncirrhotic
Postaxial acrofacial dysostosis
Postaxial Polydactyly Type A
Postaxial polydactyly type B
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posterior Amelia with Pelvic and Pulmonary Hypoplasia
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior hypospadias
Posterior polymorphous corneal dystrophy
Posterior urethral valve
Posterior-predominant lissencephaly-broad flat pons and medulla-midline defects ...
Posteriorly predominant pachygyria and severe microcephaly
Postnatal microcephaly hypomyelination and reduced cerebral white-Matter volume
Postnatal microcephaly-infantile hypotonia-spastic disability syndrome ...
Postsynaptic congenital myasthenic syndromes
Postural orthostatic tachycardia syndrome due to NET deficiency
POTOCKI-LUPSKI SYNDROME
Potocki-Shaffer syndrome
POU1F1-Related Combined Pituitary Hormone Deficiency
PPARG-related familial partial lipodystrophy
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
PPM1D syndrome
PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations
PPP1R13L-related dilated cardiomyopathy
PPP1R21-related neurodevelopmental disorder
PRADER-WILLI SYNDROME
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
PREAXIAL DEFICIENCY POSTAXIAL POLYDACTYLY AND HYPOSPADIAS
PRECOCIOUS PUBERTY CENTRAL 1
Precocious puberty central 2
PRECOCIOUS PUBERTY MALE-LIMITED
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Predisposition to invasive fungal disease due to CARD9 deficiency
Predisposition to severe viral infection due to IRF7 deficiency
Preeclampsia
PREECLAMPSIA/ECLAMPSIA 1
PREECLAMPSIA/ECLAMPSIA 4
PREECLAMPSIA/ECLAMPSIA 5
PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 1
PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 2
PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 3
PREIMPLANTATION EMBRYONIC LETHALITY 1
PREIMPLANTATION EMBRYONIC LETHALITY 2
PREKALLIKREIN DEFICIENCY
PREMATURE AGING SYNDROME PENTTINEN TYPE
PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE OVARIAN FAILURE 1
Premature ovarian failure 10
Premature ovarian failure 11
Premature ovarian failure 12
PREMATURE OVARIAN FAILURE 13
PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 15
PREMATURE OVARIAN FAILURE 16
PREMATURE OVARIAN FAILURE 2A
PREMATURE OVARIAN FAILURE 2B
PREMATURE OVARIAN FAILURE 3
Premature ovarian failure 5
PREMATURE OVARIAN FAILURE 6
Premature ovarian failure 7
Premature ovarian failure 8
Premature ovarian failure 9
PREMATURE OVARIAN FAILURE SYNDROME TYPE 1
Prenatal benign hypophosphatasia
Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Presynaptic congenital myasthenic syndromes
PRETERM PREMATURE RUPTURE OF THE MEMBRANES
Pretibial dystrophic epidermolysis bullosa
PRIM1-related Primordial Dwarfism
Primary aldosteronism seizures and neurologic abnormalities
Primary Autosomal Recessive Microcephaly
Primary biliary cholangitis
Primary CD59 deficiency
PRIMARY CILARY DYSKINESIA
Primary ciliary dyskineasia
Primary ciliary dyskinesia
Primary Ciliary Dyskinesia and Male Infertility
Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein ...
Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Primary ciliary dyskinesia with central-Complex defects
Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
PRIMARY CILIARY DYSKINESIA-22
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Primary ciliary dysplasia
Primary cillary dyskineasia
PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Primary cutaneous anaplastic large cell lymphoma
Primary dystonia DYT2 type
Primary dystonia DYT27 type
Primary dystonia DYT4 type
Primary dystonia DYT6 type
Primary erythromelalgia
PRIMARY FAILURE OF TOOTH ERUPTION
Primary familial polycythemia
Primary Fanconi renotubular syndrome
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Primary hypereosinophilic syndrome
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary hypomagnesemia with secondary hypocalcemia
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency with natural-killer cell deficiency and adrenal ...
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Primary intraosseous venous malformation
Primary lateral sclerosis
PRIMARY LATERAL SCLEROSIS JUVENILE
Primary mediastinal large B-cell lymphoma
Primary microcephaly
Primary Microcephaly and Disturbed Centrosomal Function
Primary microcephaly cortical malformation and epileptic encephalopathy
Primary Microcephaly or macrocephaly with developmental delay
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Primary myelofibrosis
Primary peritoneal carcinoma
Primary pigmented nodular adrenocortical disease
Primary sclerosing cholangitis
Primordial Dwarfism
PRIMORDIAL DWARFISM SECKEL SYNDROME 8
Primrose syndrome
PRKACA-related Multiple Congenital Malformation Syndrome
PRKACB-related Multiple Congenital Malformation Syndrome
PRKAR1B-related developmental disorder
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
PROGEROID SYNDROME
Progeroid syndrome Petty type
PROGESTERONE RESISTANCE
Progressive autosomal recessive ataxia-deafness syndrome
Progressive cerebella-cerebral atrophy type 2
Progressive cerebello-cerebral atrophy
Progressive Childhood Encephalopathy and Golgi Dysfunction
Progressive cone dystrophy
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive epilepsy-intellectual disability syndrome Finnish type
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal ...
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ...
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONSAUTOSOMAL ...
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
PROGRESSIVE FAMILIAL HEART BLOCK TYPE IA
PROGRESSIVE FAMILIAL HEART BLOCK TYPE IB
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 4
Progressive familial intrahepatic cholestasis type 5
Progressive microcephaly-seizures-cortical blindness-developmental delay ...
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 5
Progressive myoclonic epilepsy type 6
Progressive myoclonic epilepsy type 7
Progressive myoclonic epilepsy type 8
Progressive myoclonic epilepsy type 9
Progressive myoclonic epilepsy with dystonia
Progressive neurological disorder and regression of developmental milestones
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive polyneuropathy with bilateral striatal necrosis
Progressive pseudorheumatoid arthropathy of childhood
Progressive pseudorheumatoid dysplasia
Progressive retinal dystrophy due to retinol transport defect
Progressive scapulohumeroperoneal distal myopathy
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Progressive Spastic Ataxia and Hypomyelination
PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth ...
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy-parkinsonism syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Progressive symmetric erythrokeratodermia
Prolactinoma
PROLIDASE DEFICIENCY
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION
PROP1-Related Combined Pituitary Hormone Deficiency
Properdin deficiency
PROPERDIN DEFICIENCY X-LINKED
PROPIONIC ACIDEMIA
PROPROTEIN CONVERTASE 1/3 DEFICIENCY
Prostate Cancer
PROSTATE CANCER HEREDITARY 1
PROSTATE CANCER HEREDITARY 12
PROSTATE CANCER HEREDITARY 13
PROSTATE CANCER HEREDITARY 2
Prostate cancer hereditary 9
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
Proteasome-associated autoinflammatory syndrome
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
PROTEIN Z DEFICIENCY
PROTEINURIA CHRONIC BENIGN
PROTEINURIA LOW MOLECULAR WEIGHT WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
Proteus syndrome
Proteus-like syndrome
PROTHROMBIN DEFICIENCY CONGENITAL
Protoplasmic astrocytoma
PROTOPORPHYRIA ERYTHROPOIETIC 1
PROTOPORPHYRIA ERYTHROPOIETIC 2
PROTOPORPHYRIA ERYTHROPOIETIC X-LINKED
Proximal 16p11.2 microdeletion syndrome
Proximal myopathy with extrapyramidal signs
Proximal myopathy with focal depletion of mitochondria
Proximal myotonic myopathy
PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
Proximal symphalangism
PrP systemic amyloidosis
PRPF8-related developmental disorder monoallelic
Prune belly syndrome
PRUNE1-related neurological syndrome
Pseudo von Willebrand disease
PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 3
PSEUDOACHONDROPLASIA
PSEUDOFOLLICULITIS BARBAE
PSEUDOHYPERKALEMIA FAMILIAL 2 DUE TO RED CELL LEAK
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL DOMINANT
PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL RECESSIVE
PSEUDOHYPOALDOSTERONISM TYPE IIB
PSEUDOHYPOALDOSTERONISM TYPE IIC
PSEUDOHYPOALDOSTERONISM TYPE IID
PSEUDOHYPOALDOSTERONISM TYPE IIE
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
PSEUDOHYPOPARATHYROIDISM TYPE IA
PSEUDOHYPOPARATHYROIDISM TYPE IB
PSEUDOHYPOPARATHYROIDISM TYPE IC
Pseudohypoparathyroidism-like disorder
PSEUDOPSEUDOHYPOPARATHYROIDISM
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS
Pseudoxanthoma elasticum
PSEUDOXANTHOMA ELASTICUM FORME FRUSTEPSEUDOXANTHOMA ELASTICUM HETEROZYGOUS ...
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor ...
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
PSMC5-related developmental disorder monoallelic
PSORIASIS 1 SUSCEPTIBILITY TO
PSORIASIS 13 SUSCEPTIBILITY TO
PSORIASIS 14 PUSTULAR
PSORIASIS 15 PUSTULAR SUSCEPTIBILITY TO
Psoriasis 2
PSORIASIS 7 SUSCEPTIBILITY TO
PSORIATIC ARTHRITIS SUSCEPTIBILITY TOPSORIATIC ARTHRITIS SUSCEPTIBILITY TO 1 ...
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Psychomotor retardation epilepsy and craniofacial dysmorphism
Pten Hamartoma Tumor Syndrome
Pterin-4 alpha-carbinolamine dehydratase deficiency
PTOSIS HEREDITARY CONGENITAL 1
PUF60 syndrome
PULMONARY ALVEOLAR MICROLITHIASIS
Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary artery and lung hypoplasia agonadism omphalocele diaphragmatic left ...
Pulmonary capillary hemangiomatosis
PULMONARY DISEASE CHRONIC OBSTRUCTIVE
Pulmonary fibrosis and/or bone marrow failure telomere-related 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE TELOMERE-RELATED 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE TELOMERE-RELATED 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE TELOMERE-RELATED 5
PULMONARY FIBROSIS IDIOPATHIC
PULMONARY HYPERTENSION NEONATAL SUSCEPTIBILITY TO
PULMONARY HYPERTENSION PRIMARY 1
PULMONARY HYPERTENSION PRIMARY 2
PULMONARY HYPERTENSION PRIMARY 3
PULMONARY HYPERTENSION PRIMARY 4
PULMONARY VENOOCCLUSIVE DISEASE
PULMONARY VENOOCCLUSIVE DISEASE 1 AUTOSOMAL DOMINANT
PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE
Pulverulent cataract
Punctate palmoplantar keratoderma type 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to ...
Pure hair and nail ectodermal dysplasia
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Pustulosis palmaris et plantaris
PYCNODYSOSTOSIS
PYCR1-related DeBarsy syndrome
PYCR2-related microcephaly-progressive leukoencephalopathy
PYLE DISEASE
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PYOGENIC STERILE ARTHRITIS PYODERMA GANGRENOSUM AND ACNE
Pyridoxal phosphate-responsive seizures
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
Pyridoxine-dependent epilepsy
PYROPOIKILOCYTOSIS HEREDITARY
PYRUVATE CARBOXYLASE DEFICIENCY
Pyruvate carboxylase deficiency benign type
Pyruvate carboxylase deficiency infantile type
Pyruvate carboxylase deficiency severe neonatal type
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
Pyruvate Dehydrogenase E1-Alpha Deficiency in females
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
PYRUVATE DEHYDROGENASE E2 DEFICIENCY
Pyruvate dehydrogenase E3 deficiency
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
Pyruvate dehydrogenase phosphatase deficiency
PYRUVATE KINASE DEFICIENCY OF RED CELLS
QRICH1 syndrome
QRICH1-related intellectual disability-chondrodysplasia syndrome
QRSL1-related combined oxidative phosphorylation defect
QUEBEC PLATELET DISORDER
Question mark ears isolated
RAB14-related developmental disorder monoallelic
RABSON-MENDENHALL SYNDROME
Radial hemimelia
RADIN BLOOD GROUP ANTIGEN
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Radiohumeral fusions with other skeletal and craniofacial anomalies
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RAFIQ SYNDROME
RAHMAN SYNDROME
Raine syndrome
RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
RALGAPA1-related neurodevelopmental disorder
Ramon syndrome
RAP1B-related developmental disorder
RAPADILINO SYNDROME
RAPH BLOOD GROUP SYSTEM
Rapid-Onset Dystonia-Parkinsonism
RAPP-HODGKIN SYNDROME
Rare isolated myopia
RARS-related autosomal recessive hypomyelinating leukodystrophy
RARS1 related hypomyelinating leukodystrophy
RAS-associated autoimmune leukoproliferative disease
RAS-associated autoimmune leukoproliferative disorder
Rasopathy with developmental delay short stature and sparse slow-growing hair
RAYNAUD-CLAES SYNDROME
RBFOX1-related neurodevelopmental disorder
Recessive dystrophic epidermolysis bullosa generalized intermediate
Recessive dystrophic epidermolysis bullosa inversa
Recessive gain of function causing increased interferon signalling
Recessive intellectual disability-motor dysfunction-multiple joint contractures ...
Recessive mitochondrial ataxia syndrome
Recessive Neurodevelopmental Syndrome
Recessive Spondylocarpotarsal Synostosis Syndrome
Recessive X-linked ichthyosis
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
Recurrent infection due to specific granule deficiency
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac disability ...
Recurrent Neisseria infections due to factor D deficiency
Reducing body myopathy
REDUCING BODY MYOPATHY X-LINKED 1A SEVERE WITH INFANTILE OR EARLYCHILDHOOD ONSET
REDUCING BODY MYOPATHY X-LINKED 1B WITH LATE CHILDHOOD OR ADULTONSET
Refractory anemia
Refractory anemia with excess blasts
Refsum disease
REFSUM DISEASE CLASSIC
Regressive spondylometaphyseal dysplasia
Reis-Bucklers corneal dystrophy
RELA fusion-positive ependymoma
REN-related autosomal dominant tubulointerstitial kidney disease
RENAL AGENESIS
Renal agenesis bilateral
Renal agenesis unilateral
RENAL CELL CARCINOMA NONPAPILLARY
Renal cell carcinoma papillary 1
RENAL CELL CARCINOMA Xp11-ASSOCIATED
Renal coloboma syndrome
RENAL CYSTS AND DIABETES SYNDROME
Renal dysplasia bilateral
RENAL DYSPLASIA CYSTIC SUSCEPTIBILITY TO
Renal dysplasia unilateral
RENAL GLUCOSURIA
RENAL HYPODYSPLASIA/APLASIA 1
Renal hypodysplasia/aplasia 2
RENAL HYPODYSPLASIA/APLASIA 3
Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Renal hypoplasia bilateral
Renal pseudohypoaldosteronism type 1
RENAL TUBULAR ACIDOSIS DISTAL 1
RENAL TUBULAR ACIDOSIS DISTAL 2 WITH PROGRESSIVE SENSORINEURAL HEARING LOSS
RENAL TUBULAR ACIDOSIS DISTAL 3 WITH OR WITHOUT SENSORINEURAL HEARING LOSS
RENAL TUBULAR ACIDOSIS DISTAL 4 WITH HEMOLYTIC ANEMIA
Renal tubular acidosis distal AD
Renal tubular acidosis distal AR
RENAL TUBULAR ACIDOSIS PROXIMAL WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
RENAL TUBULAR DYSGENESIS
Renal tubular dysgenesis of genetic origin
Renal tubulopathy-encephalopathy-liver failure syndrome
RENAL-COLOBOMA SYNDROME
Renal-Hepatic ciliopathy
RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
Renin-angiotensin-aldosterone system-blocker-induced angioedema
RENPENNING SYNDROME 1
RERE-related neurodevelopmental syndrome
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor ...
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Resistance to thyrotropin-releasing hormone syndrome
Respiratory chain disorder
RESPIRATORY PAPILLOMATOSIS JUVENILE RECURRENT CONGENITAL
RESTING HEART RATE VARIATION IN
Restrictive dermopathy
RESTRICTIVE DERMOPATHY LETHAL
RETICULAR DYSGENESIS
Reticular dystrophy of the retinal pigment epithelium
Reticulate acropigmentation of Kitamura
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Retinal arterial tortuosity
Retinal arteries tortuosity of
RETINAL CONE DYSTROPHY 3 PDE6H
RETINAL CONE DYSTROPHY 3A
RETINAL CONE DYSTROPHY 3B
RETINAL CONE DYSTROPHY 4
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal dystrophy and obesity
Retinal dystrophy iris coloboma and comedogenic acne syndrome
Retinal dystrophy juvenile cataracts and short stature syndrome
RETINAL DYSTROPHY OPTIC NERVE EDEMA SPLENOMEGALY ANHIDROSIS AND MIGRAINE ...
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
RETINAL DYSTROPHY WITH LEUKODYSTROPHY
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Retinal macular dystrophy type 2
RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC
Retinal vasculopathy with cerebral leukoencephalopathy and systemic ...
Retinitis pigmentosa
RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 10
RETINITIS PIGMENTOSA 11
RETINITIS PIGMENTOSA 12
RETINITIS PIGMENTOSA 13
RETINITIS PIGMENTOSA 14
RETINITIS PIGMENTOSA 17
RETINITIS PIGMENTOSA 18
RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 2
RETINITIS PIGMENTOSA 20
RETINITIS PIGMENTOSA 23
RETINITIS PIGMENTOSA 25
RETINITIS PIGMENTOSA 26
RETINITIS PIGMENTOSA 27
Retinitis Pigmentosa 28
RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 30
RETINITIS PIGMENTOSA 31
Retinitis pigmentosa 32
RETINITIS PIGMENTOSA 33
RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 36
RETINITIS PIGMENTOSA 37
RETINITIS PIGMENTOSA 38
RETINITIS PIGMENTOSA 39
RETINITIS PIGMENTOSA 4
RETINITIS PIGMENTOSA 40
RETINITIS PIGMENTOSA 41
RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 43
RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 45
RETINITIS PIGMENTOSA 46
RETINITIS PIGMENTOSA 47
RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 50
RETINITIS PIGMENTOSA 51
RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
RETINITIS PIGMENTOSA 61
REtinitis pigmentosa 62
RETINITIS PIGMENTOSA 66
Retinitis pigmentosa 67
RETINITIS PIGMENTOSA 68
RETINITIS PIGMENTOSA 69
RETINITIS PIGMENTOSA 7
RETINITIS PIGMENTOSA 70
RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 75
RETINITIS PIGMENTOSA 76
RETINITIS PIGMENTOSA 77
RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 80
RETINITIS PIGMENTOSA 81
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
RETINITIS PIGMENTOSA 83
RETINITIS PIGMENTOSA 84
RETINITIS PIGMENTOSA 85
RETINITIS PIGMENTOSA 86
RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT
RETINITIS PIGMENTOSA 88
RETINITIS PIGMENTOSA 89
RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 90
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
Retinitis pigmentosa skeletal anomalies and intellectual disability
RETINITIS PIGMENTOSA TYPE 51
RETINITIS PIGMENTOSA TYPE 55
RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
RETINITIS PIGMENTOSA X-LINKED AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT ...
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial syndrome ...
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability ...
RETINITIS PUNCTATA ALBESCENS
RETINOBLASTOMA
RETINOPATHY OF PREMATURITY
RETINOSCHISIS 1 X-LINKED JUVENILE
Rett Syndrome
Rett syndrome congenital variant
RETT SYNDROME: RTT
Reunion Island Larsen-like syndrome
Revesz syndrome
Reynolds syndrome
RFT1-CDG
RFVT2-related riboflavin transporter deficiency
RFVT3-related riboflavin transporter deficiency
Rh deficiency syndrome
RH-NULL AMORPH TYPE
RH-NULL REGULATOR TYPE
Rhabdoid predisposition syndrome 1
RHABDOID TUMOR PREDISPOSITION SYNDROME 1
Rhabdoid tumor predisposition syndrome 2
RHABDOMYOSARCOMA 2
RHABDOMYOSARCOMA EMBRYONAL 1
Rhabdomyosarcoma embryonal 2
Rheumatoid arthritis
RHEUMATOID ARTHRITIS SYSTEMIC JUVENILE
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
RHYNS syndrome
RIBOFLAVIN DEFICIENCY
Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and ...
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Ribose-5-P isomerase deficiency
Richieri Costa-Pereira syndrome
RICHIERI-COSTA-PEREIRA SYNDROME
rickets vitamin D-dependent type 2A
RIDDLE syndrome
RIEGER ANOMALY
RIGHT ATRIAL ISOMERISM
Right sided atrial isomerism
RIGID SPINE MUSCULAR DYSTROPHY 1
Rigid spine syndrome
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME LETHAL NEONATAL
RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease
RIN2 syndrome
RING DERMOID OF CORNEA
RIPPLING MUSCLE DISEASE
RIPPLING MUSCLE DISEASE 2
RITSCHER-SCHINZEL SYNDROME 1
Ritscher-schinzel syndrome 2
RNF13-related severe early-onset epileptic encephalopathy
ROBERTS SYNDROME
ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
ROBINOW SYNDROME AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME AUTOSOMAL DOMINANT 2
ROBINOW SYNDROME AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME AUTOSOMAL RECESSIVE 1
ROBINOW SYNDROME AUTOSOMAL RECESSIVE 2
ROBINOW-SORAUF SYNDROME
ROIFMAN SYNDROME
Rolandic epilepsy
ROLANDIC EPILEPSY MENTAL RETARDATION AND SPEECH DYSPRAXIA X-LINKED
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Romano-Ward syndrome
Rothmund-Thomson Syndrome Type 1
Rothmund-Thomson syndrome type 2
Rotor syndrome
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
Roussy-Levy syndrome
RPS19-Related Diamond-Blackfan Anemia
RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 2
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RUBINSTEIN-TAYBI SYNDROME TYPE 1
RUBINSTEIN-TAYBI SYNDROME TYPE 2
RUIJS-AALFS SYNDROME
S-adenosylhomocysteine hydrolase deficiency
Saccharopinuria
Sacral agenesis with vertebral anomalies
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent canal ...
SACRAL DEFECT WITH ANTERIOR MENINGOCELE
SAETHRE-CHOTZEN SYNDROME
Saldino-Mainzer syndrome
SALIH MYOPATHY
SALIVARY GLAND ADENOMA PLEOMORPHIC
SALLA DISEASE
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME
SANDESTIG-STEFANOVA SYNDROME
SANDHOFF DISEASE
Sandhoff disease adult form
Sandhoff disease infantile form
Sandhoff disease juvenile form
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Sarcoidosis
SARCOIDOSIS SUSCEPTIBILITY TO 1
SARCOIDOSIS SUSCEPTIBILITY TO 2
SARCOMA SYNOVIAL
SARCOSINEMIA
SATB1-related developmental disorder monoallelic
SATB2-associated syndrome due to a chromosomal rearrangement
SATB2-associated syndrome due to a pathogenic variant
SAUL-WILSON SYNDROME
SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME
SC PHOCOMELIA SYNDROME
SCA14
SCAF4-related Neurodevelopmental Disorder
Scalp-ear-nipple syndrome
Scaphocephaly maxillary retrusion and mental retardation
SCAPULOPERONEAL MYOPATHY MYH7-RELATED
SCAPULOPERONEAL MYOPATHY X-LINKED DOMINANT
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
SCAPULOPERONEAL SYNDROME NEUROGENIC KAESER TYPE
SCHAAF-YANG SYNDROME
SCHEIE SYNDROME
Schilbach-Rott syndrome
Schimke immuno-osseous dysplasia
SCHIMKE IMMUNOOSSEOUS DYSPLASIA
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
SCHINDLER DISEASE TYPE I
Schinzel-Giedion midface retraction syndrome
Schinzel-Giedion syndrome
Schizencephaly
Schizophrenia
Schizophrenia 15
SCHIZOPHRENIA 18
SCHIZOPHRENIA 19
SCHIZOPHRENIA 4
SCHIZOPHRENIA 6
SCHIZOPHRENIA 9
SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
SCHNECKENBECKEN DYSPLASIA
SCHNYDER CORNEAL DYSTROPHY
Schopf-Schulz-Passarge syndrome
Schuurs-hoeijmakers syndrome
Schwannomatosis
SCHWANNOMATOSIS 1
Schwannomatosis 2
Schwartz Jampel syndrome type 1
Schwartz-Jampel syndrome
SCLEROSING CHOLANGITIS NEONATAL
SCLEROSTEOSIS
SCLEROSTEOSIS 1
SCLEROSTEOSIS 2
SCN1A-Related Seizure Disorders
SCOTT SYNDROME
SCUBE3-related developmental disorder
SEA-BLUE HISTIOCYTE DISEASE
Sea-blue histiocytosis
Sebocystomatosis
Seborrhea-like dermatitis with psoriasiform elements
Seckel syndrome
SECKEL SYNDROME 1
SECKEL SYNDROME 10
SECKEL SYNDROME 2
SECKEL SYNDROME 4
SECKEL SYNDROME 5
SECKEL SYNDROME 6
SECKEL SYNDROME 7
Seckel syndrome 8
Seckel syndrome 9
SECKEL SYNDROME TYPE 1
SEDOHEPTULOKINASE DEFICIENCY
Segawa syndrome autosomal recessive
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus ...
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
SEIZURES BENIGN FAMILIAL INFANTILE 2
SEIZURES BENIGN FAMILIAL INFANTILE 3
SEIZURES BENIGN FAMILIAL INFANTILE 5
SEIZURES BENIGN FAMILIAL NEONATAL 1
SEIZURES BENIGN FAMILIAL NEONATAL 2
Seizures cortical blindness and microcephaly syndrome
SEIZURES EARLY-ONSET WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
SEIZURES SCOLIOSIS AND MACROCEPHALY/MICROCEPHALY SYNDROME
SEIZURES SENSORINEURAL DEAFNESS ATAXIA MENTAL RETARDATION AND ELECTROLYTE ...
Seizures-scoliosis-macrocephaly syndrome
SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE
SELENON-related myopathy
Self-improving collodion baby
Semantic dementia
Semilobar holoprosencephaly
Sengers syndrome
Senior-Boichis syndrome
Senior-Loken syndrome
SENIOR-LOKEN SYNDROME 1
SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 5
SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 8
Senior-Loken syndrome 9
Sensorineural deafness with dilated cardiomyopathy
Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies
SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Septo-optic dysplasia spectrum
SEPTOOPTIC DYSPLASIA
Septopreoptic holoprosencephaly
SERKAL SYNDROME
SERPIN PEPTIDASE INHIBITOR CLADE A MEMBER 2 PSEUDOGENE
Serrated polyposis syndrome
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
SET syndrome
SETD1B associated intellectual disability epilepsy and autism
SETD2-associated Overgrowth Syndrome
SETLEIS SYNDROME
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Severe Asphyxiating Thoracic Dysplasia
Severe autosomal dominant nocturnal frontal lobe epilepsy
Severe autosomal recessive macrothrombocytopenia
Severe Canavan disease
Severe Cobblestone Lissencephaly
Severe Combined Immune Deficiency Autosomal Recessive T Cell-Negative B Cell NK ...
SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE B NK DUE ...
SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE B NK ...
Severe combined immunodeficiency autosomal recessive T cell-negative B NK ...
Severe combined immunodeficiency autosomal recessive T cell-negative B NK ...
Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CARMIL2 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to FOXN1 deficiency
Severe combined immunodeficiency due to IKK2 deficiency
Severe combined immunodeficiency due to LAT deficiency
Severe combined immunodeficiency due to LCK deficiency
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY GROWTH RETARDATION AND TO ...
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
SEVERE COMBINED IMMUNODEFICIENCY X-LINKED
Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital nemaline myopathy
Severe congenital neutropenia
SEVERE CUTANEOUS ADVERSE REACTION SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS ...
severe dermatitis multiple allergies and metabolic wasting
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Severe early-childhood-onset retinal dystrophy
Severe early-onset axonal neuropathy due to MFN2 deficiency
Severe early-onset encephalopathy with progressive microcephaly
SEVERE EARLY-ONSET EPILEPSY
Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy ...
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 ...
Severe generalized recessive dystrophic epidermolysis bullosa
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual ...
Severe Growth Retardation Spine Malformations and Developmental Delays
Severe hemophilia A
Severe hemophilia B
Severe hereditary thrombophilia due to congenital protein C deficiency
Severe hereditary thrombophilia due to congenital protein S deficiency
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal ...
Severe ID with neuronal migration disorder
Severe Infantile Syndromic Encephalopathy
Severe Infantile-Onset Encephalopathy
Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability epilepsy and cataracts
Severe intellectual disability-corpus callosum agenesis-facial ataxia syndrome ...
Severe intellectual disability-poor language-strabismus-grimacing face-long ...
Severe intellectual disability-progressive postnatal microcephaly- midline hand ...
Severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial ...
Severe microcephaly and short stature
Severe microcephaly short stature and intellectual disability
Severe motor and intellectual disabilities-sensorineural deafness-dystonia ...
Severe myopia-generalized joint laxity-short stature syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 ...
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Severe Neonatal- Childhood- or Later-Onset Cardiomyopathy Associated with ...
Severe neonatal-onset encephalopathy with microcephaly
Severe neurodegenerative syndrome with lipodystrophy
Severe Neurodevelopmental Disability Hypotonia and Seizures
Severe Neurodevelopmental Disease with Seizures
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand ...
Severe Neurodevelopmental Syndrome
Severe obesity with neurobehavioral features
Severe phosphoribosylpyrophosphate synthetase superactivity
Severe primary trimethylaminuria
Severe pseudo-TORCH syndrome
Severe syndromic form of thoracic aortic aneurysm and dissection
Severe X-linked mitochondrial encephalomyopathy
SEX REVERSAL TYPE 3
Sezary syndrome
SHAHEEN SYNDROME
SHASHI-PENA SYNDROME
Sheldon-Hall syndrome
SHMT2-related neurodevelopmental syndrome
Short chain acyl-CoA dehydrogenase deficiency
SHORT QT SYNDROME 1
SHORT QT SYNDROME 2
SHORT QT SYNDROME 3
Short rib-polydactyly syndorme type II
Short rib-polydactyly syndrome Beemer-Langer type
Short rib-polydactyly syndrome Majewski type
Short rib-polydactyly syndrome Saldino-Noonan type
Short rib-polydactyly syndrome type 5
Short rib-polydactyly syndrome Verma-Naumoff type
SHORT SLEEP FAMILIAL NATURAL 1
SHORT SLEEP FAMILIAL NATURAL 2
SHORT STATURE AMELOGENESIS IMPERFECTA AND SKELETAL DYSPLASIA WITH SCOLIOSIS
SHORT STATURE AND ADVANCED BONE AGE WITH OR WITHOUT EARLY-ONSETOSTEOARTHRITIS ...
SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
SHORT STATURE AUDITORY CANAL ATRESIA MANDIBULAR HYPOPLASIA AND SKELETAL ...
SHORT STATURE BRACHYDACTYLY IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES
Short Stature Developmental Delay and Congenital Heart Defects
Short stature due to GHSR deficiency
Short stature due to growth hormone qualitative anomaly
Short stature due to isolated growth hormone deficiency with X-linked ...
Short stature due to partial GHR deficiency
Short stature due to primary acid-labile subunit deficiency
SHORT STATURE FACIAL DYSMORPHISM AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ...
SHORT STATURE HEARING LOSS RETINITIS PIGMENTOSA AND DISTINCTIVE FACIES
Short stature idiopathic X-linked
SHORT STATURE MICROCEPHALY AND ENDOCRINE DYSFUNCTION
Short stature onychodysplasia facial dysmorphism and hypotrichosis
SHORT STATURE OPTIC NERVE ATROPHY AND PELGER-HUET ANOMALY
Short stature palatal anomalies congenital heart disease and skeletal ...
SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DEVELOPMENTAL DELAY
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
Short stature-advanced bone age-early onset osteoarthritis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies ...
Short stature-brachydactyly-obesity-global developmental delay syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Short stature-optic atrophy-Pelger-Huet anomaly syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
SHORT syndrome
Short-Rib Polydactyly
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
Short-rib thoracic dysplasia 3 with or without polydactyly
Short-rib thoracic dysplasia 4 with or without polydactyly
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
Shox-related short stature
Shprintzen-Goldberg craniosynostosis syndrome
SHPRINTZEN-GOLDBERG SYNDROME
SHUKLA-VERNON SYNDROME
SHWACHMAN-DIAMOND SYNDROME
SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 2
SIAH1-associated neurodevelopmental disorder
Sialidosis
Sialidosis type 1
SIALURIA
Sick sinus syndrome 1
SICK SINUS SYNDROME 2
SICK SINUS SYNDROME 3 SUSCEPTIBILITY TO
SICKLE CELL ANEMIA
Sickle cell-beta-thalassemia disease syndrome
Sickle cell-hemoglobin C disease syndrome
Sickle cell-hemoglobin D disease syndrome
Sickle cell-hemoglobin E disease syndrome
SIDDIQI SYNDROME
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY PERIODIC FEVERS AND DELAY ...
SIFRIM-HITZ-WEISS SYNDROME
Silent pituitary adenoma
SILVER-RUSSELL SYNDROME 1
SILVER-RUSSELL SYNDROME 3
SILVER-RUSSELL SYNDROME 4
Silver-Russell syndrome 5
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to a point mutation
Silver-Russell syndrome due to an imprinting defect of 11p15
SIM1-related Prader-Willi-like syndrome
Simpson-Golabi-Behmel syndrome
SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 1
Simpson-Golabi-Behmel syndrome type 2
SIN3A-related intellectual disability syndrome due to a point mutation
Singleton-Merten dysplasia
Singleton-Merten syndrome
SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 2
Sinoatrial node dysfunction and deafness
Sinus Bradycardia and Cognitive Disability
SITOSTEROLEMIA
SITOSTEROLEMIA 1
SITOSTEROLEMIA 2
Situs ambiguus
Situs inversus totalis
SIX2-related frontonasal dysplasia
SJOEGREN-LARSSON SYNDROME
Sjogren-Larsson syndrome
SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION
SKELETAL DYSPLASIA MILD WITH JOINT LAXITY AND ADVANCED BONE AGE
Skeletal dysplasia with severe neurological disease
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Skeletal Ewing sarcoma
SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter ...
SKIN CREASES CONGENITAL SYMMETRIC CIRCUMFERENTIAL 1
Skin creases congenital symmetric circumferential 2
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 10
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 11
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 2
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 3
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 5
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 6
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 7
Skin/hair/eye pigmentation variation in 8
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 9
SKRABAN-DEARDORFF SYNDROME
SLC12A5-related epilepsy of infancy with migrating focal seizures
SLC25A1-related Neurometabolic Disorder
SLC35A1-CDG
SLC35A2-CDG
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SLC39A8-CDG
SLC5A6-related Neurodevelopmental Disorder
SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3
SLOWED NERVE CONDUCTION VELOCITY AUTOSOMAL DOMINANT
SMAD3-Related Loeys-Dietz Syndrome
Small cell cancer of the lung
Small cell carcinoma of the ovary
Small cell lung cancer
SMALL PATELLA SYNDROME
SMARCA4-deficient sarcoma of thorax
SMG8-related Developmental Disorder
SMG9 Multiple Congenital Anomaly Syndrome
Smith-Fineman-Myers syndrome
SMITH-KINGSMORE SYNDROME
SMITH-LEMLI-OPITZ SYNDROME
SMITH-MAGENIS SYNDROME
SMITH-MCCORT DYSPLASIA
SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 2
SMO-related developmental disorder
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
Smoldering systemic mastocytosis
SNEDDON SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-FISHER SYNDROME
SNOWFLAKE VITREORETINAL DEGENERATION
SNYDER-ROBINSON SYNDROME
Sodium channelopathy-related small fiber neuropathy
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
Solitary fibrous tumor/hemangiopericytoma
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLUBLE INTERLEUKIN-6 RECEPTOR SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS
SOLUTE CARRIER FAMILY 4 ANION EXCHANGER MEMBER 1
SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY
SORSBY FUNDUS DYSTROPHY
Sorsby pseudoinflammatory fundus dystrophy
SOTOS SYNDROME
SOTOS SYNDROME 1
SOTOS SYNDROME 2
SOTOS SYNDROME 3
Southeast Asian ovalocytosis
SOX6-related neurodevelopmental syndrome
SPAST-related developmental disorder monoallelic
SPASTIC ATAXIA 1 AUTOSOMAL DOMINANT
SPASTIC ATAXIA 2 AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 3 AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4 AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5 AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 8 AUTOSOMAL RECESSIVE WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 9 AUTOSOMAL RECESSIVE
SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE
Spastic ataxia-dysarthria due to glutaminase deficiency
SPASTIC PARALYSIS INFANTILE-ONSET ASCENDING
SPASTIC PARAPLEGIA 10 AUTOSOMAL DOMINANT
Spastic paraplegia 11 autosomal recessive
SPASTIC PARAPLEGIA 12 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 13 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 15 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 17 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 18 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 2 X-LINKED
SPASTIC PARAPLEGIA 20 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 23 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 26 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 28 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 3 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 30 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 31 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 33 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 35 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 39 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 4 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 42 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 43 AUTOSOMAL RECESSIVE
Spastic paraplegia 44
SPASTIC PARAPLEGIA 44 AUTOSOMAL RECESSIVE
Spastic paraplegia 45 autosomal recessive
SPASTIC PARAPLEGIA 46 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 48 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 50 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 53 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 54 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56 AUTOSOMAL RECESSIVE
Spastic paraplegia 57 autosomal recessive
SPASTIC PARAPLEGIA 5A AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 6 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 61 AUTOSOMAL RECESSIVE
Spastic paraplegia 62 autosomal recessive
Spastic paraplegia 63 autosomal recessive
Spastic paraplegia 64 autosomal recessive
SPASTIC PARAPLEGIA 7 AUTOSOMAL RECESSIVE
Spastic paraplegia 72 autosomal recessive
SPASTIC PARAPLEGIA 73 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 74 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 75 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76 AUTOSOMAL RECESSIVE
Spastic paraplegia 77 autosomal recessive
SPASTIC PARAPLEGIA 78 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 79 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 8 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 80 AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 81 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 82 AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 83 AUTOSOMAL RECESSIVE
Spastic paraplegia 9 autosomal dominant
SPASTIC PARAPLEGIA 9A AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 9B AUTOSOMAL RECESSIVE
Spastic paraplegia and psychomotor retardation with or without seizures
SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15
SPASTIC PARAPLEGIA INTELLECTUAL DISABILITY NYSTAGMUS AND OBESITY
SPASTIC PARAPLEGIA OPTIC ATROPHY AND NEUROPATHY
Spastic paraplegia type 2
Spastic paraplegia type 7
SPASTIC PARAPLEGIA X-LINKED TYPE 2
Spastic paraplegia-11
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spastic paraplegia-Paget disease of bone syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA PROGRESSIVE
SPASTIC TETRAPLEGIA THIN CORPUS CALLOSUM AND PROGRESSIVE MICROCEPHALY
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly ...
Spasticity childhood-onset with hyperglycinemia
SPECIFIC GRANULE DEFICIENCY 1
SPECIFIC GRANULE DEFICIENCY 2
SPECIFIC LANGUAGE IMPAIRMENT 5
Spectrin-associated autosomal recessive cerebellar ataxia
SPEECH-LANGUAGE DISORDER 1
SPEN-related developmental disorder monoallelic
SPERMATOGENIC FAILURE 1
SPERMATOGENIC FAILURE 10
SPERMATOGENIC FAILURE 11
SPERMATOGENIC FAILURE 12
Spermatogenic failure 13
Spermatogenic failure 14
Spermatogenic failure 15
SPERMATOGENIC FAILURE 16
SPERMATOGENIC FAILURE 17
SPERMATOGENIC FAILURE 18
SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 20
SPERMATOGENIC FAILURE 21
SPERMATOGENIC FAILURE 22
SPERMATOGENIC FAILURE 23
SPERMATOGENIC FAILURE 24
SPERMATOGENIC FAILURE 25
SPERMATOGENIC FAILURE 26
SPERMATOGENIC FAILURE 27
SPERMATOGENIC FAILURE 28
SPERMATOGENIC FAILURE 29
Spermatogenic failure 3
SPERMATOGENIC FAILURE 30
SPERMATOGENIC FAILURE 31
SPERMATOGENIC FAILURE 32
SPERMATOGENIC FAILURE 33
SPERMATOGENIC FAILURE 34
SPERMATOGENIC FAILURE 35
SPERMATOGENIC FAILURE 36
SPERMATOGENIC FAILURE 37
SPERMATOGENIC FAILURE 38
SPERMATOGENIC FAILURE 39
SPERMATOGENIC FAILURE 4
SPERMATOGENIC FAILURE 40
SPERMATOGENIC FAILURE 41
SPERMATOGENIC FAILURE 42
SPERMATOGENIC FAILURE 43
SPERMATOGENIC FAILURE 44
SPERMATOGENIC FAILURE 45
SPERMATOGENIC FAILURE 46
SPERMATOGENIC FAILURE 47
SPERMATOGENIC FAILURE 48
SPERMATOGENIC FAILURE 5
SPERMATOGENIC FAILURE 6
SPERMATOGENIC FAILURE 7
Spermatogenic failure 8
SPERMATOGENIC FAILURE 9
SPERMATOGENIC FAILURE X-LINKED 2
SPERMATOGENIC FAILURE Y-LINKED 2
SPHEROCYTOSIS TYPE 1
SPHEROCYTOSIS TYPE 2
SPHEROCYTOSIS TYPE 3
SPHEROCYTOSIS TYPE 4
SPHEROCYTOSIS TYPE 5
Spheroid body myopathy
Spinal and Bulbar Muscular Atrophy
SPINAL AND BULBAR MUSCULAR ATROPHY X-LINKED 1
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy
SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 1
SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 2
SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 4
SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 5
Spinal muscular atrophy distal X-linked 3
SPINAL MUSCULAR ATROPHY INFANTILE JAMES TYPE
Spinal muscular atrophy jokela type
SPINAL MUSCULAR ATROPHY LATE-ONSET FINKEL TYPE
SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 1 AUTOSOMALDOMINANT
SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 2A CHILDHOOD ONSET DOMINANT ...
SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 2B PRENATAL ONSET AUTOSOMAL ...
Spinal muscular atrophy lower extremity-predominant AD
SPINAL MUSCULAR ATROPHY TYPE I
SPINAL MUSCULAR ATROPHY TYPE II
SPINAL MUSCULAR ATROPHY TYPE III
SPINAL MUSCULAR ATROPHY TYPE IV
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
Spinal muscular atrophy with congenital bone fractures 2
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
Spinal Muscular Atrophy with Respiratory Distress 1
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 2
SPINAL MUSCULAR ATROPHY X-LINKED 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
SPINOCEREBELLAR ATAXIA 1
SPINOCEREBELLAR ATAXIA 10
SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 12
SPINOCEREBELLAR ATAXIA 13
SPINOCEREBELLAR ATAXIA 14
SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 17
Spinocerebellar ataxia 19
SPINOCEREBELLAR ATAXIA 2
SPINOCEREBELLAR ATAXIA 21
Spinocerebellar ataxia 23
SPINOCEREBELLAR ATAXIA 26
SPINOCEREBELLAR ATAXIA 27
SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 29
Spinocerebellar ataxia 29 congenital nonprogressive
SPINOCEREBELLAR ATAXIA 31
SPINOCEREBELLAR ATAXIA 34
SPINOCEREBELLAR ATAXIA 35
SPINOCEREBELLAR ATAXIA 36
SPINOCEREBELLAR ATAXIA 37
Spinocerebellar ataxia 38
SPINOCEREBELLAR ATAXIA 40
Spinocerebellar ataxia 41
Spinocerebellar ataxia 42
SPINOCEREBELLAR ATAXIA 42 EARLY-ONSET SEVERE WITH NEURODEVELOPMENTAL DEFICITS
Spinocerebellar ataxia 43
SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 45
SPINOCEREBELLAR ATAXIA 46
SPINOCEREBELLAR ATAXIA 47
SPINOCEREBELLAR ATAXIA 48
SPINOCEREBELLAR ATAXIA 5
SPINOCEREBELLAR ATAXIA 6
SPINOCEREBELLAR ATAXIA 7
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 11
Spinocerebellar ataxia autosomal recessive 12
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 13
Spinocerebellar ataxia autosomal recessive 14
Spinocerebellar ataxia autosomal recessive 15
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 16
Spinocerebellar ataxia autosomal recessive 17
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 18
Spinocerebellar ataxia autosomal recessive 2
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 21
Spinocerebellar ataxia autosomal recessive 22
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 23
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 25
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 26
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 27
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 28
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 4
Spinocerebellar ataxia autosomal recessive 7
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy 1
Spinocerebellar ataxia autosomal recessive with axonal neuropathy 2
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE WITH AXONAL NEUROPATHY 3
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 18
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 37
Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 4
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 41
Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 43
Spinocerebellar ataxia type 5
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8
Spinocerebellar Ataxia Type15
Spinocerebellar ataxia with axonal neuropathy type 1
Spinocerebellar ataxia with axonal neuropathy type 2
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA X-LINKED 1
SPLIT HAND AND FOOT MALFORMATION
Split hand-split foot-deafness syndrome
SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
Split-foot malformation-mesoaxial polydactyly syndrome
Split-hand/foot malformation 1
SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS ...
SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 6
SPLIT-HAND/FOOT MALFORMATION TYPE 3
SPLIT-HAND/FOOT MALFORMATION TYPE 6
SPONASTRIME dysplasia
SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
Spondylo-ocular syndrome
SPONDYLOARTHROPATHY SUSCEPTIBILITY TO 1
Spondylocarpotarsal synostosis
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCOSTAL DYSOSTOSIS 1 AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 2 AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 3 AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4 AUTOSOMAL RECESSIVE
Spondylocostal dysostosis 5
Spondylocostal dysostosis 6 autosomal recessive
SPONDYLOCOSTAL DYSOSTOSIS TYPE 1
SPONDYLOCOSTAL DYSOSTOSIS TYPE 2
SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Spondyloenchondrodysplasia
Spondyloenchondrodysplasia with immune dysregulation
SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA BOROCHOWITZ-CORMIER-DAIRE TYPE
Spondyloepimetaphyseal dysplasia congenita Strudwick type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA DI ROCCO TYPE
Spondyloepimetaphyseal dysplasia Faden-Alkuraya type
Spondyloepimetaphyseal dysplasia Genevieve type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA ISIDOR-TOUTAIN TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA KRAKOW TYPE
Spondyloepimetaphyseal dysplasia matrilin-3 type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE
Spondyloepimetaphyseal dysplasia PAPSS2 type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHOHAT TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SPONASTRIME TYPE
Spondyloepimetaphyseal dysplasia Strudwick type
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION
Spondyloepimetaphyseal dysplasia with joint laxity
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 WITH OR WITHOUT ...
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 3
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal Dysplasia with Severe Short Stature
SPONDYLOEPIMETAPHYSEAL DYSPLASIA X-LINKED
Spondyloepimetaphyseal dysplasia X-linked with hypomyelinating leukodystrophy
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Spondyloepiphyseal dysplasia Kimberley type
SPONDYLOEPIPHYSEAL DYSPLASIA KONDO-FU TYPE
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia Nishimura type
Spondyloepiphyseal dysplasia stanescu type
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA X-LINKED
SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Spondyloepiphyseal dysplasia with metatarsal shortening
SPONDYLOMETAEPIPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Spondylometaphyseal dysplasia 'corner fracture' type
Spondylometaphyseal dysplasia axial
SPONDYLOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE
SPONDYLOMETAPHYSEAL DYSPLASIA MEGARBANE-DAGHER-MELKI TYPE
Spondylometaphyseal dysplasia Schmidt type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY
Spondylometaphyseal Dysplasia with Corner Fractures
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SPONDYLOOCULAR SYNDROME
SPONDYLOPERIPHERAL DYSPLASIA
Spondyloperipheral dysplasia-short ulna syndrome
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
SPOP-related Neurodevelopmental Disorder dominant negative
SPOP-related Neurodevelopmental Disorder gain of function
Sporadic fatal insomnia
Sporadic pheochromocytoma/secreting paraganglioma
Sporadic porphyria cutanea tarda
SPTBN1-related developmental disorder monoallelic
SQUALENE SYNTHASE DEFICIENCY
SQUAMOUS CELL CARCINOMA HEAD AND NECK
Squamous cell carcinoma of salivary glands
Squamous cell carcinoma of the esophagus
Squamous cell carcinoma of the hypopharynx
Squamous cell carcinoma of the larynx
Squamous cell carcinoma of the lip
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oral cavity
Squamous cell carcinoma of the oropharynx
SRD5A3-CDG
SRRM2-related developmental disorder monoallelic
SRSF1-related developmental disorder monoallelic
SSR4-CDG
STAG1 syndromic intellectual disability
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal ...
STAG2-related developmental delay with microcephaly and congenital anomalies
STANKIEWICZ-ISIDOR SYNDROME
Stapes ankylosis with broad thumbs and toes
STAR syndrome
STARGARDT DISEASE
STARGARDT DISEASE 1
STARGARDT DISEASE 3
STARGARDT DISEASE 4
STAT3-related early-onset multisystem autoimmune disease
STEATOCYSTOMA MULTIPLEX
Steel syndrome
Steinert myotonic dystrophy
Sterile multifocal osteomyelitis with periostitis and pustulosis
Stevens-Johnson syndrome
Stickler syndrome
Stickler syndrome type 1
STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR
Stickler syndrome type 2
STICKLER SYNDROME TYPE 3
STICKLER SYNDROME TYPE 4
STICKLER SYNDROME TYPE I
STICKLER SYNDROME TYPE I NONSYNDROMIC OCULAR
STICKLER SYNDROME TYPE II
STICKLER SYNDROME TYPE IV
Stickler syndrome type V
Stiff skin syndrome
Sting-associated vasculopathy infantile-onset
STING-associated vasculopathy with onset in infancy
STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
Stormorken syndrome
Stormorken-Sjaastad-Langslet syndrome
STRIATAL DEGENERATION AUTOSOMAL DOMINANT 1
Striatal degeneration autosomal dominant 2
Striate palmoplantar keratoderma
STRIATONIGRAL DEGENERATION CHILDHOOD-ONSET
STRIATONIGRAL DEGENERATION INFANTILE
STROKE ISCHEMIC
STROMME SYNDROME
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND ...
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
STT3A-CDG
STT3B-CDG
Sturge-Weber syndrome
Stuttering familial persistent 1
Stuve-Wiedemann syndrome
Subcortical band heterotopia
SUBCORTICAL BAND HETEROTOPIA X-LINKED
SUBCUTANEOUS LIPODYSTROPHY DEAFNESS MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Subcutaneous panniculitis-like T-cell lymphoma
Submucosal cleft palate
Succinate-semialdehyde dehydrogenase deficiency
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
succinyl-CoA-3-ketoacid-CoA transferase deficiency
SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
SUCRASE-ISOMALTASE DEFICIENCY CONGENITAL
Sudden arrhythmic cardiac death after infectious or alcohol trigger
SUDDEN CARDIAC FAILURE ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE INFANTILE
SUDDEN INFANT DEATH SYNDROME
SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
Sudden infant death-dysgenesis of the testes syndrome
SULEIMAN-EL-HATTAB SYNDROME
Sulfatidosis Juvenile Austin Type
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
SULFITE OXIDASE DEFICIENCY ISOLATED
Superficial epidermolytic ichthyosis
SUPRANUCLEAR PALSY PROGRESSIVE 1
SUPRAVALVULAR AORTIC STENOSIS
SUPT16H-related neurodevelopmental disorder
SURF1-related Charcot-Marie-Tooth disease type 4
SURFACTANT METABOLISM DYSFUNCTION PULMONARY 1
SURFACTANT METABOLISM DYSFUNCTION PULMONARY 2
SURFACTANT METABOLISM DYSFUNCTION PULMONARY 3
SURFACTANT METABOLISM DYSFUNCTION PULMONARY 4
SURFACTANT METABOLISM DYSFUNCTION PULMONARY 5
SUSCEPTIBILITY TO AUTISM TYPE 16
SUSCEPTIBILITY TO AUTISM TYPE 17
SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2
Susceptibility to infection due to TYK2 deficiency
Susceptibility to localized juvenile periodontitis
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Sveinsson chorioretinal atrophy
SWEENEY-COX SYNDROME
Sweet syndrome
SYMPHALANGISM PROXIMAL 1A
SYMPHALANGISM PROXIMAL 1B
SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA
Symptomatic form of Coffin-Lowry syndrome in female carriers
Symptomatic form of fragile X syndrome in female carrier
Symptomatic form of hemochromatosis type 1
Symptomatic form of hemophilia A in female carriers
Symptomatic form of hemophilia B in female carriers
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Synaptic congenital myasthenic syndromes
SYNCRIP-related developmental disorder monoallelic
SYNDACTYLY MESOAXIAL SYNOSTOTIC WITH PHALANGEAL REDUCTION
Syndactyly type 3
Syndactyly type 4
Syndactyly type 5
Syndactyly type 8
SYNDACTYLY TYPE III
SYNDACTYLY TYPE IV
SYNDACTYLY TYPE V
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndromic congenital heart defects
Syndromic congenital sodium diarrhea
Syndromic diarrhea
Syndromic ID with severe microcephaly
Syndromic intellectual disability
Syndromic Intellectual Disability and Developmental Delay
Syndromic Intellectual Disability Resembling Other PP2A Related Disorders ...
Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Syndromic microphthalmia type 5
SYNDROMIC MR WITH ATAXIA DYSARTHRIA AND EPILEPSY
Syndromic multisystem autoimmune disease due to Itch deficiency
Syndromic Neurodevelopmental Disorder
Syndromic Neurodevelopmental Disorder with Corpus Collosum Axon Cardiac Ocular ...
Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
Syndromic neutropenia with Shwachman-Diamond-like features
Syndromic osteogenesis imperfecta
Syndromic recessive X-linked ichthyosis
Syndromic sensorineural deafness due to combined oxidative phosphorylation ...
syndromic X-linked intellectual disability
Syndromic X-linked intellectual disability due to JARID1C mutation
SYNGAP1-related developmental and epileptic encephalopathy
Synovial sarcoma
SYNPOLYDACTYLY 1
SYNPOLYDACTYLY 2
SYNPOLYDACTYLY 3/3-PRIME/4 ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
Synpolydactyly type 1
Synpolydactyly type 2
Systemic lupus erythematosus
SYSTEMIC LUPUS ERYTHEMATOSUS 16
SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 1
SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 10
SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 11
SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 2
SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 9
Systemic mastocytosis with associated hematologic neoplasm
Systemic primary carnitine deficiency
Systemic-onset juvenile idiopathic arthritis
SYT2-related congenital onset presynaptic myasthenic syndrome
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-CELL IMMUNODEFICIENCY CONGENITAL ALOPECIA AND NAIL DYSTROPHY
T-cell immunodeficiency recurrent infections and autoimmunity with or without ...
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell large granular lymphocyte leukemia
T-CELL LYMPHOMA SUBCUTANEOUS PANNICULITIS-LIKE
T-CELL LYMPHOPENIA INFANTILE WITH OR WITHOUT NAIL DYSTROPHY AUTOSOMAL DOMINANT
Takayasu arteritis
Takenouchi-Kosaki syndrome
Tall stature-intellectual disability-facial dysmorphism syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Tall stature-scoliosis-macrodactyly of the great toes syndrome
TANC2-related neurodevelopmental and psychiatric disorders
TANGIER DISEASE
TARP syndrome
TARSAL-CARPAL COALITION SYNDROME
Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY)
Tatton-Brown-rahman syndrome
TAY-SACHS DISEASE
Tay-Sachs disease B variant adult form
Tay-Sachs disease B variant infantile form
Tay-Sachs disease B variant juvenile form
TAY-SACHS DISEASE B1 VARIANT
TBC1D2B-related neurodevelopmental disorder
TBCK-related intellectual disability syndrome
TCF20 syndrome
TCF7L2-related developmental disorder monoallelic
TCR-alpha-beta-positive T-cell deficiency
TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 1
TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 2
TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 5
Telangiectasia macularis eruptiva perstans
Telethonin-related limb-girdle muscular dystrophy R7
TELO2 Syndromic Intellectual Disability Disorder
TELO2-related intellectual disability-neurodevelopmental disorder
Temperature-sensitive oculocutaneous albinism type 1
Temple barraister syndrome
Temple syndrome due to maternal uniparental disomy of chromosome 14
Temple syndrome due to paternal 14q32.2 hypomethylation
Temple syndrome due to paternal 14q32.2 microdeletion
TEMPLE-BARAITSER SYNDROME
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Temtamy syndrome; coloboma hypoplastic corpus callosum and intellectual ...
TENORIO SYNDROME
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1
TERMINAL OSSEOUS DYSPLASIA
Terminal osseous dysplasia-pigmentary defects syndrome
Tessier number 4 facial cleft
Tessier number 7 facial cleft
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
TESTICULAR GERM CELL TUMOR
Testicular regression syndrome
Testicular seminomatous germ cell tumor
TET3 DNA Demethylation Disorder biallelic
TET3 DNA Demethylation Disorder monoallelic
Tetra-Amelia Syndrome
Tetra-amelia with lung agenesis
TETRAAMELIA SYNDROME 1
TETRAAMELIA SYNDROME 2
Tetraamelia-multiple malformations syndrome
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Tetralogy of Fallot
TFE3-related intellectual disability with pigmentary mosaicism
Thanatophoric dysplasia type 1
THANATOPHORIC DYSPLASIA TYPE 2
THANATOPHORIC DYSPLASIA TYPE I
THANATOPHORIC DYSPLASIA TYPE II
THAUVIN-ROBINET-FAIVRE SYNDROME
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND ...
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 EPISODIC ENCEPHALOPATHYTYPE
Thiamine-responsive encephalopathy
Thiamine-responsive maple syrup urine disease
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Thiel-Behnke corneal dystrophy
THIOPURINES POOR METABOLISM OF 1
THIOPURINES POOR METABOLISM OF 2
THIOUREA TASTING
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Thomsen and Becker disease
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
THREE M SYNDROME 1
THREE M SYNDROME 2
Three M syndrome 3
THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 3
Thrombocythemia with distal limb defects
THROMBOCYTOPENIA 1
THROMBOCYTOPENIA 2
THROMBOCYTOPENIA 3
Thrombocytopenia 4
Thrombocytopenia 5
THROMBOCYTOPENIA 6
THROMBOCYTOPENIA ANEMIA AND MYELOFIBROSIS
THROMBOCYTOPENIA WITH BETA-THALASSEMIA X-LINKED
Thrombocytopenia with congenital dyserythropoietic anemia
THROMBOCYTOPENIA X-LINKED WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Thrombomodulin-related bleeding disorder
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO THROMBIN DEFECT
Thrombophilia due to thrombomodulin defect
THROMBOPHILIA FAMILIAL DUE TO DECREASED RELEASE OF TISSUE PLASMINOGENACTIVATOR
THROMBOPHILIA X-LINKED DUE TO FACTOR IX DEFECT
THROMBOTIC THROMBOCYTOPENIC PURPURA HEREDITARY
THYROID CANCER NONMEDULLARY 1
THYROID CANCER NONMEDULLARY 2
THYROID CANCER NONMEDULLARY 4
THYROID CANCER NONMEDULLARY 5
THYROID CARCINOMA FAMILIAL MEDULLARY
THYROID CARCINOMA HURTHLE CELL
THYROID DYSHORMONOGENESIS 1
THYROID DYSHORMONOGENESIS 2A
THYROID DYSHORMONOGENESIS 3
THYROID DYSHORMONOGENESIS 4
THYROID DYSHORMONOGENESIS 5
THYROID DYSHORMONOGENESIS 6
Thyroid ectopia
THYROID HORMONE METABOLISM ABNORMAL
THYROID HORMONE RESISTANCE GENERALIZED AUTOSOMAL DOMINANT
THYROID HORMONE RESISTANCE GENERALIZED AUTOSOMAL RECESSIVE
THYROID HORMONE RESISTANCE SELECTIVE PITUITARY
Thyroid Hormonogenesis Defect I
Thyroid hypoplasia
THYROID-STIMULATING HORMONE RECEPTOR
Thyrotoxic periodic paralysis
THYROTOXIC PERIODIC PARALYSIS SUSCEPTIBILITY TO 1
THYROTOXIC PERIODIC PARALYSIS SUSCEPTIBILITY TO 2
THYROTROPIN-RELEASING HORMONE DEFICIENCY
THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS
TIBIA HYPOPLASIA OR APLASIA OF WITH POLYDACTYLY
Tibial aplasia-ectrodactyly syndrome
Tibial hemimelia
Tibial muscular dystrophy
TIBIAL MUSCULAR DYSTROPHY TARDIVE
TIETZ ALBINISM-DEAFNESS SYNDROME
Tietz syndrome
TIMOTHY SYNDROME
Titin-related limb-girdle muscular dystrophy R10
TKFC-related Cataracts and Multisystem Disease
TLK2 syndrome
TMEM106B related hypomyelinating leukodystrophy
TMEM165-CDG
TMEM199-CDG
TMEM251-related skeletal dysplasia
TMEM70-related mitochondrial encephalo-cardio-myopathy
TMEM94-associated congenital heart defect-facial dysmorphism-developmental ...
TN POLYAGGLUTINATION SYNDROME
TNP03-related limb-girdle muscular dystrophy D2
TNRC6B-related neurodevelopmental disorder
TOBACCO ADDICTION SUSCEPTIBILITY TO
TOE SYNDACTYLY TELECANTHUS AND ANOGENITAL AND RENAL MALFORMATIONS
TOGARAM1-related ciliopathy
TOLCHIN-LE CAIGNEC SYNDROME
TONNE-KALSCHEUER SYNDROME
Tooth agenesis
TOOTH AGENESIS SELECTIVE 1
TOOTH AGENESIS SELECTIVE 3
TOOTH AGENESIS SELECTIVE 4
Tooth agenesis selective 7
TOOTH AGENESIS SELECTIVE 8
TOOTH AGENESIS SELECTIVE 9
TOOTH AGENESIS SELECTIVE X-LINKED 1
tooth agenesis selective X-linked type 1
TOR1AIP1-related limb-girdle muscular dystrophy
Toriello-Carey syndrome
Toriello-Lacassie-Droste syndrome
Total early-onset cataract
Total spina bifida aperta
Total spina bifida cystica
TOWNES-BROCKS SYNDROME
TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 2
TRANSALDOLASE DEFICIENCY
Transcobalamin deficiency
TRANSCOBALAMIN II DEFICIENCY
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
Transient familial neonatal hyperbilirubinemia
Transient Hypomyelination during Infancy
Transient infantile hypertriglyceridemia and hepatosteatosis
Transient myeloproliferative syndrome
Transient neonatal diabetes mellitus
Transient Neonatal Hyperparathyroidism
Transketolase deficiency
Transposition of the great arteries dextro-looped 1
TRAPPC11-related limb-girdle muscular dystrophy R18
TREACHER COLLINS SYNDROME 1
TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 3
TREACHER COLLINS SYNDROME 4
TREACHER COLLINS SYNDROME TYPE 1
TREACHER COLLINS SYNDROME TYPE 2
Treacher-Collins syndrome
TREHALASE DEFICIENCY
TREMOR HEREDITARY ESSENTIAL 1
TREMOR HEREDITARY ESSENTIAL 4
Tremor hereditary essential 5
TREMOR HEREDITARY ESSENTIAL 6
Tremor-ataxia-central hypomyelination syndrome
Tricho-dento-osseous syndrome
TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
TRICHODENTOOSSEOUS SYNDROME
TRICHOEPITHELIOMA MULTIPLE FAMILIAL 1
Trichohepatoenteric syndrome
TRICHOHEPATOENTERIC SYNDROME 1
TRICHOHEPATOENTERIC SYNDROME 2
Trichohepatoneurodevelopmental syndrome
Trichomegaly
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type 2
TRICHORHINOPHALANGEAL SYNDROME TYPE I
TRICHORHINOPHALANGEAL SYNDROME TYPE III
Trichothiodystrophy
TRICHOTHIODYSTROPHY 1 PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 2 PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3 PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 4 NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 5 NONPHOTOSENSITIVE
Trichothiodystrophy 6 nonphotosensitive
TRICHOTHIODYSTROPHY 7 NONPHOTOSENSITIVE
trichothiodystrophy non-photosensitive type 1
TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Trichotillomania
Triglyceride deposit cardiomyovasculopathy
TRIGONOCEPHALY 1
TRIGONOCEPHALY 2
TRIM32-related limb-girdle muscular dystrophy R8
TRIM8-related neurodevelopmental disorder
TRIMETHYLAMINURIA
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
TRIP12-related intellectual disability with/without autism spectrum disorder
TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
Triple A syndrome
Trismus-pseudocamptodactyly syndrome
Trisomy Xq28
TRITANOPIA
tRNA isopentenyltransferase deficiency
TROPICAL CALCIFIC PANCREATITIS
Tropical pancreatitis
TRPM3-related developmental disorder monoallelic
TRUNCUS ARTERIOSIS
TRUNCUS ARTERIOSUS
TSH-secreting pituitary adenoma
TTC12-related Primary Ciliary Dyskinesia
TTC5-associated neurodevelopmental disorder
Tuberculosis
Tuberous sclerosis 1
Tuberous sclerosis 2
Tuberous sclerosis complex
TUBEROUS SCLEROSIS TYPE 1
TUBEROUS SCLEROSIS TYPE 2
Tubular-Aggregate Myopathy
Tubulinopathy-associated dysgyria
Tufted angioma
Tumor necrosis factor receptor 1 associated periodic syndrome
TUMOR PREDISPOSITION SYNDROME
TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 1
TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 2
TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 3
TUMORAL CALCINOSIS NORMOPHOSPHATEMIC FAMILIAL
Turcot syndrome with polyposis
TURNPENNY-FRY SYNDROME
TWINNING DIZYGOTICOVARIAN RESPONSE TO FSH STIMULATION INCLUDED
TYLOSIS WITH ESOPHAGEAL CANCER
TYPE 1 DIABETES MELLITUS
TYPE 1 DIABETES MELLITUS 10
TYPE 1 DIABETES MELLITUS 12
TYPE 1 DIABETES MELLITUS 2
TYPE 1 DIABETES MELLITUS 20
TYPE 1 DIABETES MELLITUS 22
TYPE 1 DIABETES MELLITUS 5
TYPE 2 DIABETES 5
TYPE 2 DIABETES MELLITUS
TYPE 2 DIABETES MELLITUS 1
Typical nemaline myopathy
Typical urticaria pigmentosa
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
TYROSINEMIA TYPE I
TYROSINEMIA TYPE II
TYROSINEMIA TYPE III
U2AF2-related developmental disorder monoallelic
UBE2A-Related X-Linked Syndromic Mental Retardation
UGP2 Epileptic Encephalopathy
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
Ullrich congenital muscular dystrophy 2
Ulna and fibula absence of with severe limb deficiency
ULNAR-MAMMARY SYNDROME
UMOD-related autosomal dominant tubulointerstitial kidney disease
UNC119 LIPID-BINDING CHAPERONE
UNC45B-associated Progressive Myopathy with Eccentric Cores
UNCOMBABLE HAIR SYNDROME
UNCOMBABLE HAIR SYNDROME 1
Uncombable hair syndrome 2
UNCOMBABLE HAIR SYNDROME 3
Undetermined early-onset epileptic encephalopathy
Unilateral multicystic dysplastic kidney
Unspecified Neurodevelopmental Disorder
Unverricht-Lundborg disease
UPF1-related developmental disorder monoallelic
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 1
URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 4
Uridine 5-prime monophosphate hydrolase deficiency hemolytic anemia due to
URIDINE-CYTIDINEURIA
Uridine-responsive epileptic encephalopathy
UROCANASE DEFICIENCY
Urocanic aciduria
UROFACIAL SYNDROME
UROFACIAL SYNDROME 1
UROFACIAL SYNDROME 2
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
Usher syndrome
Usher syndrome type 1
USHER SYNDROME TYPE 1D
USHER SYNDROME TYPE 1J
USHER SYNDROME TYPE 1M
Usher syndrome type 2
Usher syndrome type 3
USHER SYNDROME TYPE I
USHER SYNDROME TYPE IC
USHER SYNDROME TYPE ID
USHER SYNDROME TYPE IF
USHER SYNDROME TYPE IG
USHER SYNDROME TYPE IIA
USHER SYNDROME TYPE IIC
USHER SYNDROME TYPE IID
USHER SYNDROME TYPE IIIB
USHER SYNDROME TYPE IJ
USHER SYNDROME TYPE IV
USP18 deficiency
USP7-related developmental disorder monoallelic
UV-sensitive syndrome
UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 3
Uveal coloboma - cleft lip and palate - intellectual disability
Uveal melanoma
VACTERL Association X-Linked with or without Hydrocephalus
VACTERL with hydrocephalus
VACTERL/VATER association
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
VAN BUCHEM DISEASE
Van Buchem disease type 2
Van den Ende-Gupta syndrome
Van der Woude syndrome
VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 2
VAN ESCH-ODRISCOLL SYNDROME
VAN MALDERGEM SYNDROME
VAN MALDERGEM SYNDROME 1
Van Maldergem syndrome 2
VANIN 1
Variable Neurodevelopmental Disorder
Variant ABeta2M amyloidosis
VARIEGATE PORPHYRIA
VAS DEFERENS CONGENITAL BILATERAL APLASIA OF
VAS DEFERENS CONGENITAL BILATERAL APLASIA OF X-LINKED
Vascular Ehlers-Danlos syndrome
VASCULAR MALFORMATION PRIMARY INTRAOSSEOUS
VASCULITIS AUTOINFLAMMATION IMMUNODEFICIENCY AND HEMATOLOGICDEFECTS SYNDROME
Vasculitis due to ADA2 deficiency
VASCULOPATHY RETINAL WITH CEREBRAL LEUKODYSTROPHY
VCP-related developmental disorder monoallelic
Vein of Galen aneurysmal malformation
VELOCARDIOFACIAL SYNDROME
VENOUS MALFORMATIONS MULTIPLE CUTANEOUS AND MUCOSAL
VENTRICULAR FIBRILLATION PAROXYSMAL FAMILIAL 1
VENTRICULAR FIBRILLATION PAROXYSMAL FAMILIAL 2
VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 2
VENTRICULAR SEPTAL DEFECT 3
VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 1 WITH OR WITHOUT ATRIAL ...
VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 2
VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 3
VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 4
Ventricular tachycardia catecholaminergic polymorphic 5 with or without muscle ...
VENTRICULAR TACHYCARDIA FAMILIAL
Ventriculomegaly with cystic kidney disease
Ventriculomegaly-cystic kidney disease
Verheij syndrome
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 1
VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 2
VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 3
VERTICAL TALUS CONGENITAL
VERVERI-BRADY SYNDROME
Very long chain acyl-CoA dehydrogenase deficiency
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency
VESICOURETERAL REFLUX 2
VESICOURETERAL REFLUX 3
Vesicoureteral reflux 8
vesicoureteral reflux type 3
VEXAS SYNDROME
VIBRATORY URTICARIA
Vici syndrome
Viral induced severe multiorgan dysfunction associated with impaired fission ...
Visceral myopathy
VISSERS-BODMER SYNDROME
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-responsive methylmalonic acidemia type cblDv2
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut0
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS TYPE 1A
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS TYPE 1B
VITAMIN D-DEPENDENT RICKETS TYPE 2A
VITAMIN D-DEPENDENT RICKETS TYPE 3
VITAMIN E FAMILIAL ISOLATED DEFICIENCY OF
VITAMIN K-DEPENDENT CLOTTING FACTORS COMBINED DEFICIENCY OF 1
VITAMIN K-DEPENDENT CLOTTING FACTORS COMBINED DEFICIENCY OF 2
Vitamin-B6-Dependent Epilepsy
Vitiligo-associated multiple autoimmune disease susceptibility 1
VITREORETINAL DEGENERATION SNOWFLAKE TYPE
VITREORETINOCHOROIDOPATHY
VITREORETINOPATHY EXUDATIVE TYPE 4
VITREORETINOPATHY NEOVASCULAR INFLAMMATORY
Vocal cord and pharyngeal distal myopathy
Vogt-Koyanagi-Harada disease
VOHWINKEL SYNDROME
VOHWINKEL SYNDROME VARIANT FORM
Von Hippel-Lindau disease
VON HIPPEL-LINDAU SYNDROME
von Willebrand disease type 1
VON WILLEBRAND DISEASE TYPE 2
Von Willebrand disease type 2A
VON WILLEBRAND DISEASE TYPE 2B
von Willebrand disease type 2M
von Willebrand disease type 2N
von Willebrand disease type 3
VPS11-related autosomal recessive hypomyelinating leukodystrophy
VULTO-VAN SILFHOUT-DE VRIES SYNDROME
WAARDENBURG SYNDROME TYPE 1
Waardenburg syndrome type 2
Waardenburg syndrome type 2A
WAARDENBURG SYNDROME TYPE 2D
WAARDENBURG SYNDROME TYPE 2E
Waardenburg syndrome type 3
WAARDENBURG SYNDROME TYPE 4A
WAARDENBURG SYNDROME TYPE 4B
WAARDENBURG SYNDROME TYPE 4C
Waardenburg-Shah syndrome
Wagner disease
WAGNER VITREORETINOPATHY
WAGR syndrome
WAISMAN SYNDROME
Waldenstrom macroglobulinemia
WALKER WARBERG SYNDROME
Walker-Warburg syndrome
WARBURG MICRO SYNDROME 1
WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 3
Warburg micro syndrome 4
Warburg micro syndrome type 1
Warburg micro syndrome type 3
Warburg-Cinotti syndrome
WARFARIN SENSITIVITY X-LINKED
WARS2-related combined oxidative phosphorylation defect
WARSAW BREAKAGE SYNDROME
WATSON SYNDROME
Weaver syndrome
WEAVER SYNDROME 2
Weaver-like overgrowth syndrome
WEBB-DATTANI SYNDROME
Weill-Marchesani syndrome
WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 2
WEILL-MARCHESANI SYNDROME 3
WEILL-MARCHESANI SYNDROME 4
WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT
WEISS-KRUSZKA SYNDROME
WELANDER DISTAL MYOPATHY
Well-differentiated liposarcoma
Werner Syndrome
WEST NILE VIRUS SUSCEPTIBILITY TO
West syndrome
WEYERS ACROFACIAL DYSOSTOSIS
WHIM SYNDROME
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
WHITE SPONGE NEVUS
WHITE SPONGE NEVUS 1
WHITE SPONGE NEVUS 2
WHITE-SUTTON SYNDROME
Wieacker-Wolff syndrome
WIEACKER-WOLFF SYNDROME FEMALE-RESTRICTED
WIEDEMANN-RAUTENSTRAUCH SYNDROME
Wiedemann-Steiner syndrome
Williams syndrome
WILLIAMS-BEUREN SYNDROME
WILMS TUMOR 1
WILMS TUMOR 5
Wilms tumor 6
Wilms tumor aniridia genitourinary anomalies and mental retardation syndrome
WILSON DISEASE
Wilson-Turner syndrome
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
Winchester syndrome
WISKOTT-ALDRICH SYNDROME
WISKOTT-ALDRICH SYNDROME 2
WITKOP SYNDROME
Witteveen-kolk syndrome
WNT5A-Related Robinow Syndrome Autosomal Dominant
WNT7A- associated skeletal malformations syndrome
WOLCOTT-RALLISON SYNDROME
Wolf-Hirschhorn syndrome
WOLFF-PARKINSON-WHITE SYNDROME
Wolfram syndrome
WOLFRAM SYNDROME 1
WOLFRAM SYNDROME 2
Wolfram syndrome type 2
Wolfram-like syndrome
WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT
WOLMAN DISEASE
WOODHOUSE-SAKATI SYNDROME
Woolly hair
WOOLLY HAIR AUTOSOMAL DOMINANT
WOOLLY HAIR AUTOSOMAL RECESSIVE 3
Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
Woolly hair nevus
Woolly hair-palmoplantar keratoderma syndrome
WRINKLY SKIN SYNDROME
X INACTIVATION FAMILIAL SKEWED 1
X-linked adrenal hypoplasia congenita due to a NR0B1 point mutation
X-linked agammaglobulinemia
X-linked Alport syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked anophthalmia syndrome
X-linked central congenital hypothyroidism with late-onset testicular ...
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 6
X-linked cleft palate and ankyloglossia
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
X-linked cone dysfunction syndrome with myopia
X-linked congenital generalized hypertrichosis
X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION
X-LINKED CREATINE DEFICIENCY SYNDROME
X-linked creatine transporter deficiency
X-linked distal spinal muscular atrophy type 3
X-linked dominant chondrodysplasia Chassaing-Lacombe type
X-linked dominant chondrodysplasia punctata
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked dystonia-parkinsonism
X-linked Ehlers-Danlos syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked erythropoietic protoporphyria
X-linked external auditory canal atresia-dilated internal auditory canal-facial ...
X-linked female restricted facial dysmorphism-short stature-choanal disability ...
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hyper-IgM syndrome
X-linked hypohidrotic ectodermal dysplasia
X-Linked Hypophosphatemia
X-LINKED HYPOSPADIAS TYPE 2
X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection ...
X-linked intellectual disability Cabezas type
X-linked intellectual disability Cantagrel type
X-linked intellectual disability due to GRIA3 mutations
X-linked intellectual disability Golabi-Ito-Hall type
X-linked intellectual disability Hedera type
X-linked intellectual disability Najm type
X-linked intellectual disability Nascimento type
X-linked intellectual disability Porteous type
X-linked intellectual disability Siderius type
X-linked intellectual disability Snyder type
X-linked intellectual disability Stocco Dos Santos type
X-linked intellectual disability Sutherland-Haan type
X-linked intellectual disability Turner type
X-linked intellectual disability Van Esch type
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal ...
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia ...
X-linked intellectual disability-global development delay-facial caudal remnant ...
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive ...
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes ...
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ...
X-linked Leigh syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB ...
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG ...
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked non progressive cerebellar ataxia
X-linked non-syndromic intellectual disability
X-linked nonsyndromic sensorineural deafness type DFN
X-linked Opitz G/BBB syndrome
X-linked osteoporosis with fractures
X-linked parkinsonism-spasticity syndrome
X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
X-linked progressive cerebellar ataxia
X-linked recessive ocular albinism
X-linked reticulate pigmentary disorder
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked severe congenital neutropenia
X-linked sideroblastic anemia
X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked spasticity-intellectual disability-epilepsy syndrome
X-Linked Spondyloepimetaphyseal Dysplasia
X-linked thrombocytopenia with normal platelets
X-LINKED TRICHOTHIODYSTROPHY
Xanthinuria type I
Xanthinuria type II
Xeroderma pigmentosum
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP F
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G
Xeroderma pigmentosum group A
Xeroderma pigmentosum group C
XERODERMA PIGMENTOSUM GROUP E DDB-NEGATIVE SUBTYPE
Xeroderma pigmentosum variant
XERODERMA PIGMENTOSUM VARIANT TYPE
Xeroderma pigmentosum-Cockayne syndrome complex
XFE PROGEROID SYNDROME
Xia-Gibbs syndrome
XL Intellectual disability
Xq21 microdeletion syndrome
Xq25 microduplication syndrome
Xq27.3q28 duplication syndrome
XYLT1-CDG
YAO SYNDROME
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
YOU-HOOVER-FONG SYNDROME
Young adult-onset distal hereditary motor neuropathy
Young-onset Parkinson disease
YT BLOOD GROUP ANTIGEN
YUNIS-VARON SYNDROME
ZBTB18 syndrome
ZBTB7A-associated developmental disorder
Zebra body myopathy
Zellweger Syndrome
ZFHX3-related developmental disorder monoallelic
ZFHX4-related developmental disorder monoallelic
ZFPM2-associated malformation syndrome
Zimmermann-Laband syndrome
ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 3
ZINC DEFICIENCY TRANSIENT NEONATAL
ZINC FINGER PROTEIN 106
ZMYM2-related developmental disorder monoallelic
ZNF148-related developmental disorder monoallelic
ZNF292-related developmental disorder monoallelic
ZNF407-related Neurodevelopmental Disorder
ZTTK SYNDROME
ZUNICH NEUROECTODERMAL SYNDROME
Zygodactyly type 3

EXP
HDA
HEP
HMP
IBA
IC
IDA
IEA
IEP
IGC
IGI
IMP
IPI
ISA
ISM
ISO
ISS
NAS
ND
RCA
TAS